Ashley Webb

Definition Muscular dystrophy (MD) is a group of rare inherited muscle diseases in which muscle fibers are unusually susceptible to damage. X-linked Recessive disease MD is due to a genetic deficiency of the protein dystrophin. Muscles, primarily voluntary muscles, become progressively weaker. In the late stages, fat and connective tissue often replace muscle fibers.

General Signs and Symptoms Muscle weakness Apparent lack of coordination Progressive crippling, resulting in contractures of the muscles around your joints and loss of mobility

Types There are 9 types of Muscular Dystrophy: Duchenne muscular dystrophy Myotonic dystrophy Facioscapulohumeral muscular dystrophy Limb-girdle muscular dystrophy Congenital muscular dystrophy Oculopharyngeal muscular dystrophy Distal muscular dystrophy Emery-Dreifuss muscular dystrophy

Duchenne muscular dystrophy most severe form occurs mostly in young boys and is the most common form of MD that affects children. usually appears between the ages of 2 and 5 Frequent falls Large calf muscles Difficulty getting up from a lying or sitting position Weakness in lower leg muscles, resulting in difficulty running and jumping Waddling gait Mild mental retardation, in some cases

Myotonic dystrophy Also known as Steinert's disease, this form of muscular dystrophy produces stiffness of muscles and an inability to relax muscles at will (myotonia), as well as the muscle weakness of the other forms of muscular dystrophy. Usually affects people in adulthood. Progression is slow. Weakening of voluntary muscles that control your arms and legs, usually beginning with the limb muscles farthest from the torso — the muscles of the feet, hands, lower legs and forearms. Weakening of head, neck and face muscles, which may result in the face having a hollow, drooped appearance. Weakening of muscles involved in breathing and swallowing. Fainting or dizziness, Weakening of muscles of hollow internal organs such as those in the digestive tract and the uterus. Difficulty sleeping well at night and daytime sleepiness, and inability to concentrate because of the effect of the disease on the brain. Frontal balding in men. Clouding of the lenses of the eyes (cataracts). Mild diabetes.

Facioscapulohumeral muscular dystrophy Also known as Landouzy-Dejerine disease, this form involves progressive muscle weakness, usually in this order: Face Shoulders Abdomen Feet Upper arms Pelvic area Lower arms

Other Forms of MD

Treatment Physical therapy: provide regular ROM exercises to keep joints as flexible as possible, delay the progression of contractures, and reduce or delay curvature of the spine. Medications: “For myotonic dystrophy. mexiletine (Mexitil), phenytoin (Dilantin, Phenytek), carbamazepine (Tegretol, Carbatrol), quinine and procainamide (Procanbid, Pronestyl) may be used to treat the delayed muscle relaxation that occurs in myotonic dystrophy. For Duchenne muscular dystrophy. The anti-inflammatory corticosteroid medication prednisone may help improve muscle strength and delay the progression of Duchenne MD.” Assistive Devices: braces, walkers, wheelchairs Surgery : to release contractures

Research Endurance training: an effective and safe treatment for patients with LGMD2I Pt’s. cycled for 30-minute sessions at 65% of their maximal oxygen uptake over 12 weeks. Training significantly improved work capacity, paralleled by self-reported improvements. Moderate-intensity endurance training is a safe method to increase exercise performance and daily function in patients. Sveen, ML. Neurology Jan 2;68(1):59-61.

Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Exercise programs have been shown to increase strength and endurance in patients 12 weeks of low-intense aerobic exercise improved maximal oxygen uptake and workload with no signs of muscle damage. Olsen DB, Orngreen, MC, Vissing, J. Neurology Mar 22;64(6):

Strength training and aerobic exercise training for muscle disease In myotonic dystrophy and facioscapulohumeral muscular dystrophy moderate-intensity strength training appears not to do harm but there is insufficient evidence to establish that it offers benefit. Van der Kooi, EL, Lindeman, E, Riphagen, I. Cochrane Database Syst Rev Jan 25;(1):CD

Muscular dystrophies: influence of physical conditioning on the disease evolution Low- to moderate-intensity resistance and aerobic training may be recommended in slowly progressive myopathic disorders. To date, there is no evidence to support the recommendation of high-resistance exercise regimens over low-moderate intensity exercise. In rapidly progressive myopathies, such as Duchenne muscular dystrophy, the use of high-resistance and eccentric training should be avoided. Ansved, T. Curr Opin Clin Nutr Metab Care Jul;6(4):435-9.

Creatine monohydrate as a therapeutic aid in muscular dystrophy. Though the mechanisms are still unknown, creatine has been shown to decrease cytoplasmic Ca 2+ levels and increase intramuscular and cerebral phosphocreatine stores, providing potential musculoskeletal and neuroprotective effects. Pearlman, JP., Fielding, RA. Nutr Rev Feb;64:80-8.

References Ansved, T. Curr Opin Clin Nutr Metab Care Jul;6(4): MayoClinic.com Olsen DB, Orngreen, MC, Vissing, J. Neurology Mar 22;64(6): Pearlman, JP., Fielding, RA. Nutr Rev Feb;64:80-8. Sveen, ML. Neurology Jan 2;68(1): Van der Kooi, EL, Lindeman, E, Riphagen, I. Cochrane Database Syst Rev Jan 25;(1):CD www-ermm.cbcu.cam.ac.uk/ h.htm