Muscular Dystrophy Any of a group of progressive muscle di sorders caused by a defect in one or more genes that contro l muscle

e function and characterized by gradual irreversibl e wasting of skeletal muscle genetic disorder that weakens the muscles that help the body move. Also called myodystrophy .

Charactheristics The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males. Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.

Causes and Classificatons Duchenne muscular dystrophy and Becker muscular dystrophy are caused by mutations in the dystrophin gene Limb-girdle muscular dystrophies are caused by mutations in other genes.

Dystrophin This protein is located primarily in skeletal and cardiac muscle it helps stabilize and protect muscle fibers Muscle cells without enough of this protein become damaged as muscles repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to the muscle weakness and heart problems characteristic of Duchenne and Becker muscular dystrophies.

Duchenne muscular dystrophy muscle weakness tends to appear in early childhood and worsen rapidly Affected children may have delayed motor skills, such as sitting, standing, and walking. usually wheelchair-dependent by adolescence mutations that prevent the production of any functional dystrophin tend to cause Duchenne muscular dystrophy.

Becker muscular dystrophy usually milder and more varied In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate. Mutations that lead to an abnormal version of dystrophin that retains some function usually cause Becker muscular dystrophy

Treatments and drugs Medications Corticosteroids, such as prednisone, may help improve muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can weaken bones and increase fracture risk. Therapy Range-of-motion exercises. One goal of physical therapy is to provide regular range-of-motion exercises to keep joints as flexible as possible.

Limb-girdle muscular dystrophy is used to describe these disorders because the muscles most severely affected are generally those of the hips and shouldersthe limb girdle muscles. The age of onset is usually between 10 and 30 Both genders are affected equally When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.

Mobility aids. Braces can provide support for weakened muscles and help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Other devices such as canes, walkers and wheelchairs can help maintain mobility and independence. Breathing assistance. As respiratory muscles weaken, a sleep apnea device may help improve oxygen delivery during the night. Some people with severe muscular dystrophy may need to rely on a ventilator a machine that forces air in and out of their lungs. Surgical and other procedures Surgical remedies are an option for several of the problems common to muscular dystrophy, such as:

Diagnosis A muscle biopsy (the removal and exam of a small sample of muscle tissue) DNA (genetic) testing Electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function)

Contractures. Tendon surgery can loosen joints drawn inward by contractures.

Scoliosis. Surgery may also be needed to correct a sideways curvature of the spine that can make breathing more difficult.

Heart problems. Some people who have heart problems related to muscular dystrophy may be helped by the insertion of a pacemaker, which prompts the heart to beat more regularly. Prognosis Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin.Survival is usually into old age. Affects only boys (with extremely rare exceptions) Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, it generally affects only boys (with extremely rare exceptions), becoming clinically evident when a child begins walking. By age 10, the child may need braces for walking and by age 12, most patients are confined to a wheelchair. Patients usually die around age 25, but this depends from person to person Limb-girdle muscular dystrophy is also called LGMD. Affects both boys and girls. LGMDs all show a similar distribution of muscle weakness, affecting both upper arms and legs. Many forms of LGMD have been identified, showing different patterns of inheritance (autosomal recessive vs. autosomal dominant). In an autosomal

recessive pattern of inheritance, an individual receives two copies of the defective gene, one from each parent. The recessive LGMDs are more frequent than the dominant forms, and usually have childhood or teenage onset. The dominant LGMDs usually show adult onset. Some of the recessive forms have been associated with defects in proteins that make up the dystrophinglycoprotein complex.Though a person normally leads a normal life with some assistance, in some extreme cases, death from LGMD occurs due to cardiopulmonary complications Educational Implications In Primary School the main considerations are around mobility and independence. In PE pupils should be encouraged to access as many physical activities as possible to use the full range of movements for as long as possible. Physiotherapists can provide help and support for PE lessons. Pupils will tire easily - monitor fatigue / look for patterns in school week. Because of increasing weakness in the shoulder girdle muscles, the child should not be pulled up by the hands or from under the arms. Use of ICT early on to establish skills before they are required. Extra time / scribe during tests / examinations