Youre Too Cute to Be Disabled: Living with Limb-Girdle Muscular Dystrophy
Book file PDF easily for everyone and every device.
You can download and read online Youre Too Cute to Be Disabled: Living with Limb-Girdle Muscular Dystrophy file PDF Book only if you are registered here.
And also you can download or read online all Book PDF file that related with Youre Too Cute to Be Disabled: Living with Limb-Girdle Muscular Dystrophy book.
Happy reading Youre Too Cute to Be Disabled: Living with Limb-Girdle Muscular Dystrophy Bookeveryone.
Download file Free Book PDF Youre Too Cute to Be Disabled: Living with Limb-Girdle Muscular Dystrophy at Complete PDF Library.
This Book have some digital formats such us :paperbook, ebook, kindle, epub, fb2 and another formats.
Here is The CompletePDF Book Library.
It's free to register here to get Book file PDF Youre Too Cute to Be Disabled: Living with Limb-Girdle Muscular Dystrophy Pocket Guide.
He made me feel normal, whatever that means. Made me try harder. It was the most amazing and yet scariest feeling all at once. I gave my heart away when I was 13 years old, to a little boy who is now my loving husband. Throughout that time we have overcome so many things.
- The Ultimate Book of Iron Deficiency: Learn the Symtoms, Causes and Treatments for Iron Deficiency Anemia.
- Anyone out there who is living with limb girdle muscular dystrophy - Muscular dystrophy - Inspire.
- Shelley Tudin - Brantford Ontario Artist and Author;
- Top Stories.
- You’ll need a new login link.?
- Shelley Tudin!
- Antiautorität! Und was bedeutet sie für die Autorität? (German Edition).
I started using a power chair when I was ; that was a big one. Moving in together, getting married.
Hearing recommendations not to have children and deciding not to listen — which I think of as being our greatest accomplishment. Almost as soon as we were married in we decided we were going to try for a baby. We knew there are other ways — adoption, having a surrogate — but all I ever wanted since I was a little girl was to be like my mother. At the same time, I was terrified the child could have what I have and that I was being selfish. My life had not been easy — would I want to knowingly do that to my own child?
Idiopathic inflammatory myopathies. NeurolClin ; Lancet ; The clinical features of mitochondrial myopathy. Brain ; Barohn RJ. Cecil textbook of medicine. Philadelphia: WB Saunders; Clinical and genetic aspects of distal myopathies. CurrOpinNeurol ; Bolton CF. Neuromuscular manifestations of critical illness. Multi-motor unit action potential analysis MMA. Automatic quantitative electromyography.
Willison RG. Analysis of electrical activity in healthy and dystrophic muscle in man. J NeurolNeurosurg Psychiatry ; Quantitative analysis of individual motor unit action potentials: A proposal for standardized terminology and criterion for measurement.
J ClinNeurophysiol ; A few of these complications are secondary to immobility such as joint tightness and reduced range of motion. All of which can be easily prevented with the aid of adequate rehabilitation. Complications secondary to steroids are constipation, osteoporosis, obesity and hypertension which require medical management. In few cases weight loss and muscle fatigue can also occur in the late stages of muscular dystrophy. The most commonly encountered complications and their management are described in detail below.
Scoliosis is a complex deformation that involves abnormal lateral and rotational curvature of the spine. It is a long C- shaped curve which involves the thoracic and lumbar spine. This condition is often seen in Duchenne muscular dystrophy cases due to loss of ambulation. Either an increased kyphosis or thoracic lordosis can be part of the deformity. The consequences of the deformity are loss of sitting balance, shortening of the trunk, and compression of the heart and lungs.
The mobility of the ribs is reduced by rotation and deformation of the trunk, causing obstruction in breathing. The pelvic obliquity together with weakness of the spinal Surgical correction is recommended to correct the spinal deformity, pelvic obliquity and to prevent further progression and improve quality of life by achieving a better sitting balance.
It is mainly performed to restore the balance of the spinal column in both coronal and sagittal planes and to improve table top activities. As weakness progresses and mobility declines measures such as standing and walking activities, positioning lower extremities in extension and orthoses to facilitate function are prescribed.
Once contractures become fixed, they respond poorly to stretching programs and orthopedic surgical management may help to regain lost function or minimize the degree of limitation. Pulmonary complications including chest infections, atelectasis, pulmonary hypoplasia and respiratory failure are the leading cause of death in the muscular dystrophies. Although people with most forms of muscular dystrophy experience some In CMD, diaphragmatic weakness is a feature even when patients are still ambulant, necessitating early respiratory monitoring.
A correlation between motor and respiratory function has been observed in other sub types of CMD. The typical respiratory progression of patients with DMD is seen, as an increase in vital capacity as predicted until about 10 years of age, after which it plateaus. With the development of respiratory muscle weakness along with skeletal deformities, vital capacity starts to fall.
Patients are at risk of aspiration pneumonia due to failure of pharyngo-oesophageal muscle function. In calpainopathy or LGMD 2A, there is late respiratory muscle involvement with sparing of the cardiac muscles. But, development of scoliosis, contractures and spinal rigidity, results in a restrictive pattern of respiratory impairment. Careful monitoring and anticipation of complications are important so that ventilatory assistance can be started at an appropriate time. Most patients respond well to ventilator support with reduced pulmonary morbidity and extended survival. A small number of trials on respiratory muscle training have been reported.
These have been concentrated on respiratory muscle strength or endurance and shown some benefit. The life expectancy in DMD is short, but recent studies have shown that non-invasive ventilation NIV can increase the survival of patients. NIV in the form of intermittent positive pressure ventilation via a mask has now largely replaced other non-invasive methods of ventilatory support.
It has fewer complications than endotracheal intubation, particularly pneumonia. Other measures such as use of assistive coughing techniques, BiPAP and airway clearance can prevent hospitalization and reduce the incidence of pneumonia. Cardiac involvement in muscular dystrophy is very common and significantly affects the quality of life of the patients. It is disease specific and involves conduction disorders, ventricular dilatation and dilated cardiomyopathy.
Loss in the integrity of the sarcolemmna, fibre necrosis and replacement of myocardium with connective tissue or fat, results in cardiac complications. Symptoms of congestive heart failure, such as Cardiomyopathy in muscular dystrophies most typically takes on a dilated form with enlarged dimensions. Over time, reduced ventricular systolic function can develop.
‘Too cute to be disabled’
Global or regional impairment of ventricular function can occur in the presence or absence of symptoms of congestive heart failure. Cardiac rhythm disturbances can contribute significantly to the morbidity and mortality associated with muscular dystrophy. The incidence of cardiomyopathy increases with age in DMD patients. Cardiomyopathy can be evident at 10 years of age and is nearly universal in DMD patients over the age of Myotonic dystrophy type 1 has a multisystem affliction with prominent cardiac problems leading to an increased incidence of sudden cardiac death.
There are reports of young patients with ventricular tachycardia VT who have no history of cardiac complaints, with phenotypic characteristics, neuromuscular testing and genetic analysis pointing towards the diagnosis of myotonic dystrophy type 1. The same regimes are also followed to prevent progressive deterioration of heart function and to improve prognosis in patients with asymptomatic left ventricular dysfunction.
Some studies also suggest that corticosteroids have a beneficial effect in DMD while cardiac pacemaker implantation is fruitful in the case of Emery-Dreifuss muscular dystrophy. Surgery of the spine in Duchenne's muscular dystrophy. Evolution of treatment of paralytic scoliosis in Rancho Los Amigos hospital. J Bone Joint Surg Am ;5 Harrington PR. Treatment of scoliosis correction and internal fixation by spine instrumentation. J Bone Joint Surg Am ; Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy.
Contractures in neuromuscular disease. Arch Phys Med Rehabil ; McDonald CV. Limb contractures in progressive neuromuscular disease and the role of stretching, orthotics and surgery. Chest Arch Phys Med Rehabil Prolongation of life in Duchenne's muscular dystrophy. Acta Neurol Napoli ; Brain Inspiratory muscle training in the patient with neuromuscular disease. Phys Ther Thorax Melacini P, Vianello A, et al.
Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. Ventricular tachycardia: first manifestation of myotonic dystrophy. Acta Cardiol. Ikuya Nonaka. Cardiac Muscle Involvement in Muscle Disorders. Internal Medicine ; 38 11 The importance of animal models in new treatment drug development is emphasized by the Guidelines for Human Somatic Cell Therapy and Gene Therapy issued by the Center for Biologics Evaluation and Research CBER , Food and Drug Administration FDA : "Due to the unique and diverse nature of the products employed in cellular and gene therapies, conventional pharmacology and toxicity testing may not always be appropriate to determine the safety and biologic activity of these agents.
Issues such as species specificity of the transduced gene, permissiveness for infection by viral vectors, and comparative physiology in available animal models mimicking the disease indication should be considered in the design of these studies. A relevant animal species would be one in which the biological response to the therapy would be expected to mimic the human response. GRMD lacks dystrophin due to incorrect splicing resulting in a truncated transcript.
The major problem with the use of these dogs is of greater individual variation in phenotype, shorter lifespan compared to unaffected siblings, and higher cost, which together limit large-scale breeding and widespread application of this animal model in research. First, scattered dystrophin-positive revertant fibers that occur due to aberrant splicing in DMD patients, mdx mice, and dystrophic dogs and otherwise confound results of gene therapy studies should be absent.
Second, and more importantly, the lack of these revertant fibers provides a "cleaner" background on which to conduct studies of the immunologic aspects of gene therapy. The animal models of lower species are emerging as useful tools for revealing the complex functions of dystrophin as well as for screening of new drugs or genetic therapies for DMD. Although, its pathogenesis is well understood there is no known cure available for any of the 9 types of muscular dystrophy. Conventional methods of coping with the disease include exercise and drugs that slow down or eliminate muscle wasting like anabolic steroids and supplementation.
Skeletal muscle is the most abundant tissue of the body and is composed of large multinucleated fibers, whose nuclei cannot divide. Consequently, any cell or gene replacement method must restore proper gene expression in hundreds of post-mitotic nuclei, which are embedded in a highly structured cytoplasm and surrounded by a thick basal lamina. Similarly, most pharmacological approaches must invade the complex and partly unknown biochemical mechanism of fiber degeneration. Historical aspect of treatment Guillaume-Benjamin Duchenne, a French neurologist, who first described Duchenne's muscular dystrophy, used faradic shock for Muscular dystrophy treatment.
This was a non-invasive technique of muscle stimulation that used faradic shock on the surface of the skin, which he called "electrisation localisee". Demonstration of the mechanics of facial expression. Duchenne and an assistant faradize Faradic shock the mimetic muscles of "The Old Man. Current treatment: The treatment of muscular dystrophy has evolved from electrical simulation to Gene Therapy and Cell Therapy. Goals of treatment: 1. To correct the genetic defect, 2. To restore functional expression of dystrophin, 3. To slow disease progression, and 4.
To improve the quality of life of MD patients Major therapeutic strategies for Muscular Dystrophy: 1. Gene Therapy: A. Gene replacement therapy -by a. Ataluren PTC - a 1, 2, 4-oxadiazole compound, which is a small molecule that can override nonsense stop translation signals to produce full-length proteins dystrophin. All these methods are aimed at slowing down the progression of the disease, or reducing the symptoms and they are also effective in prolonging the lifespan of affected individuals. Steroids have been demonstrated to be efficacious in slowing the progression of muscular dystrophy especially DMD and in delaying the loss of independent ambulation, stabilize muscle strength and preserve pulmonary functions.
Alternatively, steroids may inhibit muscle degradation by stabilizing lysosomal-bound proteases or muscle cell membranes. Finally, prednisone could reduce muscle damage and necrosis through its immunosuppressive and anti-inflammatory effects. A methyloxazoline derivative of prednisolone, deflazacort DFZ , has shown some promise in providing similar effects to prednisone with a less concerning side effect profile.
Reduction in the total amount of steroids with different treatment schedules, such as alternate-day, pulsed, high-dose intermittent or daily low-dose administration, may decrease side effects. Therapeutic molecules such as ACE are also being developed for the treatment of DMD patients with the goal of improving strength and preserving physical functions. Due to the side effects of the above steroids and therapeutic molecules, many studies have been carried out to study the use of creatine as an effective treatment for muscular dystrophy especially DMD. A study by Tarnopolsky reported the benefits of creatine supplements in patients with DMD.
Creatine is a guanidino compound that may confer therapeutic benefit in muscular dystrophy by increasing strength and fatfree mass FFM , by its antioxidant properties, by reducing protein breakdown and by enhancing sarcoplasmic reticulum calcium reuptake. Till about 10 clinical trials were carried out to test the safety and efficacy of these drugs.
Two small studies suggested that clomipramine and imipramine might have a short-term beneficial effect on the myotonia in myotonic dystrophy and one small study suggested that taurine might have a long-term beneficial effect in myotonic dystrophy. Minor side effects such as dry mouth and dizziness were reported with clomipramine and imipramine, but not with taurine. It was not possible to determine whether drug treatment was safe and effective based on this evidence. Hence, larger, well-designed randomized controlled trials are required. Heregulin, acts via the N-box motif of the utrophin A promoter 11 and L-arginine, results in an increase in utrophin expression as a result of increased production of nNOS.
Serum creatine kinase, muscle fibrosis and necrosis are also reduced indicating that SMT C diminishes the catastrophic secondary pathology associated with the disease. SMT C was taken into Phase I trials, although there were no safety issues, the plasma levels of the drug were not high enough for the trials to continue into patients.
New formulations of the drug are currently being explored by Summit plc with a view to taking this The therapeutic use of these drugs is promising but more screens are required for the same. Nutritional support is often overlooked but is important especially in order to improve quality of life. Antioxidants and anti-inflammatories have known to offer some benefit. Animal studies have shown that diet rich in omegafatty acids prevent skeletal muscle lesions and improves muscle appearance on histological examination.
Management of muscle extensibility and joint contractures is a key part of rehabilitation management. One goal of physical therapy is to provide regular rangeof-motion exercises to keep the joints as flexible as possible, delaying the progression of contractures, and reducing or delaying curvatures of the spine.
Wheelchair Photo Escape
Braces are used especially on the ankles and feet to prevent equinus gait. Full-leg braces may be used in DMD to prolong the period of independent walking. Strengthening other muscle groups to compensate for weakness may be possible if the affected muscles are few and isolated, as in the earlier stages of the milder muscular dystrophies.
Regular, nonstrenuous exercise helps maintain general good health. Strenuous exercise is usually not recommended, since it may damage muscles further. Wheelchairs, canes and walkers are also used to help patients keep their independence and walking capabilities. Treatment programs, especially focusing the shoulder, should be started for the upper extremities. Effects of rehabilitation will be further discussed in detail in Chapter Genetic counseling is advised for people with a family history of the inherited disorder.
It helps to identify families at risk, investigate the problem present, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family. For families living with Duchenne or Becker muscular dystrophy, it can offer several benefits.
Genetic counseling plays a major role in DMD; its aim should be to avoid the birth of the affected males. During counseling one can explain the cause of muscular dystrophy, the typical symptoms and course of the disorder, and can discuss and facilitate diagnostic and genetic testing options. Parents often are uncertain about the purpose of genetic counseling and what it entails. In the case of Duchenne muscular dystrophy, the basic purpose of counseling is to help a couple understand the hereditary nature of the disorder and the probable risk for them and other family members of having a dystrophic child.
Couples are then able to make informed decisions about future childbearing. Each time a DMD carrier mother has a child; there are four possible outcomes, each with an equal probability of happening. Thus, the chance of producing an affected It is important to know that unaffected son of carrier mothers do not have the DMD gene, and therefore, cannot transmit DMD to their offspring.
The same is true for those daughters of carriers who have not inherited the DMD gene. If circumstances should allow a male affected with DMD to reproduce, and if his wife was not a carrier of DMD, then all of his sons would be unaffected and free of the gene but all of his daughters would be carriers. Carrier Testing Genetic testing can help tell whether a woman is definitely a carrier or whether she is very unlikely to be a carrier. Carriers have an increased chance of having boys with Duchenne or Becker muscular dystrophy.
If a woman knows she is a carrier, she can make more informed childbearing plans. Identifying carriers in the family can provide information to other family members about their chance of also being carriers and having affected sons. The method for carrier testing should be determined by the woman's family history, including whether the mutation in the family is known. If the mutation is known; only that mutation needs to be tested.
If the mutation in the family is not known because the affected person was not tested, it is best to test him first. If genetic testing was done in the past and no mutation was found, it might be appropriate to test the affected individual again using new and improved tests, which can identify more mutations. The types of tests that have been used for carrier testing include creatine phosphokinase CPK testing, muscle biopsy, and genetic carrier testing.
In most cases, CPK testing and muscle biopsy are not good choices for carrier testing. CPK levels are higher in child and adolescent carriers than in adult female carriers, who are the ones more likely to have carrier testing. CPK levels also may be increased for reasons other than muscular dystrophy, such as strenuous activity or sickness.
A muscle biopsy is an invasive test, which is less accurate as compared to genetic testing. If a woman has a child with DMD or BMD and also has other affected male family members, for example an affected brother or nephew, it is extremely likely that she is a carrier.
These are random changes to the genetic code in the dystrophin gene that happen in only one egg or sperm, that one egg or sperm could create an affected male; rarely, a carrier female child who could later have affected children. The possibility for new mutations is one of the reasons Another possibility is that some families have several generations with mostly or all females that is, they have no boys to express the disease.
These families may not know that there are several generations of carriers. Affected people in the same family almost always have the same mutations in the dystrophin gene and will have the same type of muscular dystrophy. Reproductive Options: There are many different reproductive options for carrier families with a higher chance of having a child with Duchenne or Becker muscular dystrophy.
Mutation in the family is known: Have a natural pregnancy and pursue testing for sex, followed by testing for the gene mutation in the family. Chorionic villus sampling CVS is generally offered between the 10th and 13th weeks of pregnancy. A small piece of the placenta is tested to determine the sex of the baby. If male, those same cells can be tested for the known mutation in the dystrophin gene in the family. Amniocentesis is generally performed starting at 15 weeks, and can be performed through the end of the pregnancy. Cells from amniotic fluid are tested to determine the sex of the baby.
If male, those same cells can be tested for the known Prenatal testing is often used to prepare for an affected child, or to make pregnancy termination decisions. Mutation in the family is not known: Have a natural pregnancy and pursue testing for sex, followed by linkage testing or fetal muscle biopsy. For families with a confirmed diagnosis of Duchenne or Becker muscular dystrophy, but where genetic testing has not identified a disease-causing factor, linkage analysis using the genetic material taken from the CVS or amniocentesis may be available.
Linkage analysis uses markers along the gene to determine whether the baby has inherited the "at risk" X chromosome. Linkage analysis is usually only available for families that have at least two affected males. This option involves blood draws from multiple generations, including the affected individuals, so discussing this option prior to a pregnancy is strongly encouraged.
When linkage analysis is not possible, some hospitals offer fetal muscle biopsy taking a small sample of muscle from the developing baby. This procedure is not offered in very many hospitals and has a higher risk for complications, including death of the fetus, than amniocentesis or CVS. Counseling about the risk and benefits of fetal muscle biopsy is absolutely necessary.
Different women will have different numbers of embryos without the dystrophin gene mutation. Egg and sperm donation Carrier females may consider pregnancy with a donor egg. Egg donation from a non-carrier reduces the chance of having a child with muscular dystrophy to the chance in the general population. Sperm donation from an un-affected male reduces the chance of having carrier daughters to the chance in the general population. In today's world where diagnoses are made earlier, care and management is better, with new therapies on the horizon.
GENE THERAPY Development of gene therapy for muscular dystrophy represents a challenge which requires significant advances in the knowledge of defective genes, muscle promoters, viral vectors, immune system surveillance and methods for systemic delivery of vectors. However, tremendous progress has been made in developing improved viral vectors There is a gene therapy method known as targeting repairing or chimeraplast, using a synthetic blend of DNA and the related RNA, which tricks the patient's own cells to repair the mutation.
Although this approach initially appeared promising, the repair rate is generally found to be too low to cure. Delivery of the appropriately modified U7 snRNA using an adeno-associated virus has demonstrated widespread dystrophin restoration in both the mdx mouse and the GRMD 18 models of DMD following only a single dose. Gene therapy is further discussed in details in Chapter Prednisone treatment in Duchenne muscular dystrophy. Long-term benefit. Arch Neurol ; Prednisone in Duchenne muscular dystrophy.
Lancet ; Mononuclear cell analysis of muscle biopsies in prednisone- treated and untreated Duchenne muscular dystrophy. Steroids in Duchenne muscular dystrophy. Neuromuscular Disorders ; Duchenne dystrophy: Randomized, controlled trial of prednisone 18 months and azathioprine 12 months. Neurology, Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response.
Clinical Investigation of Duchenne Dystrophy Group. Deflazacort treatment of Duchenne muscular dystrophy. J Pediatr , Tarnopolsky, D. Mahoney, J. Vajsar et al. Creatine monohydrate enhances strength and body composition in Duchenne muscular dystrophy. Drug treatment for myotonia. Cochrane Database of Systematic Reviews , Issue 1. DOI: Heregulin ameliorates the dystrophic phenotype in mdx mice. Pharmacological treatments for Duchenne and Becker dystrophies. J Soc Biol ; , Functional substitution by TAT-utrophin in dystrophin-deficient mice. Okadaic acid augments utrophin in myogenic cells.
Neurosci Lett ; Daily treatment with SMT C, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. An omega-3 fatty acid-enriched diet prevents skeletal muscle lesions in a hamster model of dystrophy. Am J Pathol. Engineering exon-skipping vectors expressing U7 snRNA constructs for Duchenne muscular dystrophy gene therapy. Methods in Molecular Biology ; , Muscle function recovery in dystrophic dog after exon skipping gene therapy.
The strategy is commonly called "exon-skipping". Although variations on this strategy might ultimately be used to try to correct deletions in many parts of the dystrophin gene, GSK targets the following deletions: , , , , 50, Idebenone is a synthetic analogue of coenzyme Q10 and is a powerful antioxidant and essential constituent of the process of energy production on the cellular level.
It can protect mitochondria from oxidative damage and boost their impaired function. It is thought that this mechanism will slow decline in heart function that is part of the disease process of Duchenne Muscular Dystrophy DMD. It is possible that patients may benefit in terms of muscle strength and respiratory function. To determine if CoQ10 and prednisone, alone and as a combination decrease the decline in cardiopulmonary and skeletal muscle function that occurs in the wheelchair confined phase of DMD. Study of Daily Pentoxifylline as a Rescue Treatment in Duchenne Muscular Dystrophy to see whether the addition of pentoxifylline to a steroid regimen is effective in treating deteriorating muscle strength by comparing the muscle strength of PTX treated subjects and placebo treated subjects.
This study is intended to build on recent findings published in the journal Nature showing beneficial effects of tadalafil also known as Cialis in mice with an animal Only two doses of tadalafil improved muscle blood flow, allowing the dystrophic mice to perform more exercise with less muscle injury. This new short-term clinical trial will move the testing from animals to human patients with Becker muscular dystrophy and examine the effects of acute tadalafil dosing on muscle blood flow during a bout of exercise. During normal conditions, the enzyme neuronal nitric oxide synthase nNOS , which produce nitric oxide NO , is attached to dystrophin.
NO is important in normal vascular function in each of muscle, heart and brain by stimulating production of cyclic GMP. However, in muscular dystrophy with dystrophin deficiency, nNOS do not have the normal cellular anchor, resulting in decreased NO levels and subsequent reduced cyclic GMP production. Such effects are the basis for use of sildenafil in pulmonary hypertension and erectile dysfunction. Current hypothesis: Sildenafil restores the cyclic GMP function affected in muscular dystrophy wit nNOS deficiency resulting in improved muscle, cardiac, cerebrovascular and cognitive function.
Gene Transfer of rAAV1. The purpose of this study is to evaluate the safety and effectiveness of gene therapy in treating children and adults with LGMD2D. To study the evaluation of clinical safety and feasibility of gene therapy in patients with limb girdle muscular dystrophy type 2C gamma-sarcoglycanopathy.
To evaluate clinical tolerance, biological tolerance, feasibility and efficacy of daily electrostimulation training of shoulder girdle and quadriceps muscles in patients with facioscapulohumeral muscular dystrophy. Myostatin is a protein that inhibits the growth of muscle tissue, stamulumab is a recombinant human antibody designed to bind to and inhibit the activity of myostatin. Stamulumab MYO is an experimental myostatin inhibiting drug.
Mexiletine Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 To investigate the effects of mexiletine treatment for 6 months on ambulation, myotonia, muscle function and strength, pain, gastrointestinal functioning, cardiac conduction, and quality of life in myotonic dystrophy type 1 DM1. To determine the safety and feasibility of a particular delivery method for gene therapy that could be used in the future to treat people with muscular dystrophies.
To investigate the use of far infrared radiation for managing muscular dystrophies. However it is gaining importance due to the nutritional deficiencies often seen among such patients. Patients with muscular dystrophy may be prone to nutrient deficiency due to mobility limitations or oropharyngeal weakness.
Patients with myotonic muscular dystrophy may be particularly prone to such deficiencies from associated dysmotility of the entire gastrointestinal tract. Research demonstrated inadequate nutrient intake of protein, energy, vitamins water and fat soluble , and minerals calcium and magnesium. Significant correlations were found between measures of strength and certain individual nutrients e.
Research indicates that a substantial number of adults with muscular dystrophy do not meet current dietary intake recommendations.
The recommended dietary allowances for other nutrients also vary. However, foods rich in nutrients like calcium, magnesium, copper, selenium are administered to such patients. Boys under the age of 14 need to watch the total caloric intake as obesity may set in due to restricted physical However, in older boys undernutrition is observed and researchers have tried to link the BMR and BEE basal energy expenditure to the rate at which muscle wasting occurs.
Photo Escape – Leanne’s Wheel Life
Therefore, an approximate calculation for energy is, 4. B Protein: Proteins are molecules of amino acids which are required by the body for proper functioning of cells, tissues and muscles. Since a large part of the muscles contain protein, the daily requirement of patients with muscular dystrophy is set to be approximately 1.
The excess protein requirement is to replenish the muscle proteins. Good quality protein with higher biological value is recommended. Egg whites, whole beans and pulses, sprouts, milk and milk products, soy proteins if no allergy must be included in the daily diet. C Calcium and Magnesium: Calcium and magnesium is critical for the muscular and nervous system and for the production of ATP molecules which provides cellular energy.
Whether dystrophin and its associated proteins have a direct role in the regulation of calcium ions, calcium channels or intracellular calcium stores, or indirectly alters calcium regulation through enhancement of membrane tearing, remains unclear. Most people think of dairy when they think of calcium. Though cheese is a good source of calcium it is high in saturated fat. A varied diet should be taken to get the best calcium absorption. Factors which inhibit calcium absorption and may contribute to calcium loss are: Aluminum foods cooked in aluminum cookware including the use of acidic foods with the cookware , aluminum foil, antacids containing aluminum and high levels of magnesium.
Zinc, oxylates a chemical that is found in sweet potatoes, dried beans, concentrated forms of phytic acid such as found in wheat bran and dried beans and dietary fiber inhibit calcium absorption. Alcohol, phosphates in soft drinks and meats , sugar, and protein increase calcium excretion. High levels of sodium may also be linked to calcium excretion. Including foods such as whole grain cereals like ragi, jowar, leafy vegetables, till seeds, flaxseeds, methi fenugreek seeds , almonds, and walnuts can increase the calcium intake in the daily diet.
The scientists also found that patients had lower-than-normal levels of a form of bioactive vitamin D and adequate dietary calcium intake seems to be an effective firstline approach that controls bone turnover, corrects vitamin D deficiency. D Selenium: It is an antioxidant that works closely with vitamin E in actions like production of antibodies.
Selenium protects the cell "machinery" that generates energy. It is also Deficiency of selenium has been associated with premature aging, heart attack, muscular dystrophy. However, further studies and trials have to be done to confirm the improvement in such patients. E Green tea: Over a last few decades green tea is under tremendous research for the amazing health benefits imparted on it. A research study conducted in Switzerland concluded that the antioxidant mechanism in green tea improved muscle health by delaying muscle necrosis in mice. The antioxidants in green tea neutralize these free radicals thereby preventing cell damage.
Dorchies et al have conducted studies on mice with green tea extracts preventing muscle necrosis. F Omega 3 fatty acids: The inclusion of omega 3 fatty acids in the diet is not only said to be effective for patients with cardiomayopathy, but also improves the muscle tissue appearance. They found that histological appearance of the muscular tissue was improved, the proliferation of interstitial cells was decreased, and the myogenic differentiation originated new myocytes to repair the injured muscle.
Although the causes of gastrointestinal symptoms in patients with MD are multifactorial, small intestinal bacterial overgrowth is an important diagnostic consideration that is easily diagnosed using glucose breath hydrogen testing and often shows a good response to treatment with common antibiotics. Constipation is often an issue with such patients. Dealing with abdominal distention and feeling of fullness is of primary concern. Bringing about dietary changes like including high fiber foods in the diet such as fruits and vegetables along with plenty of fluids. This increases the fecal bulk by absorbing the water in the colon relieving constipation.
Childhood obesity is another major concern in such children. Overfeeding along with lack of physical activity further aggravates the weight gain process. A good heavy breakfast comprising of cereals and pulses or protein foods, as it provides energy for the entire day. The afternoon meal must be a balanced one with complex carbohydrates whole cereals and a serving of protein food with high biological value. A very light dinner with soft and easy to digest vegetables to avoid gastrointestinal discomfort.
Plenty of fluids soups, lime juice, buttermilk, coconut water throughout the day to relieve constipation. Non-vegetarian foods like chicken and fish can be included provided they are cooked in lesser amount of fat. Including soy protein can be beneficial if no food allergy is seen, however more research is in progress. Indian condiments and spices are very rich in calcium, iron, and antioxidants, hence must be a part of the daily diet.
The digestion processes is also enhanced by including such foods. In short, a complete well balanced diet with plenty of vegetables, fruits, whole cereals and pulses with omega 3 fatty acids and packed with antioxidants can contribute to better and healthy living. Nutritional inadequacy in adults with muscular dystrophy Muscle Nerve. Munn MW. Estimate of daily calorie needs for a neuromuscular disease patient receiving noninvasive ventilation Am J Phys Med Rehabil.