Limb Girdle

Limb-girdle muscular dystrophy is known hereditarily heterogeneous. LGMD2A is caused by mutations on chromosome 15 in the calpain-3 gene. There are at least 19 forms of CGD, and they are classified by the inherited flaws that show to their cause. All limb-girdle muscular dystrophy (CMD) show a similar distribution of muscle weakness, affecting both arms and legs. Limb-girdle muscular dystrophy can begin in childhood, adolescence, adulthood, or even later. Both sexes are equally affected. When a member of belts muscular dystrophy begins in childhood. It is not yet possible to predict the course of LGMD in an individual.

Some forms of growth disorders loss of the ability to walk within a few years and debilitating calm, even if the progress of other very gradually over several years leading to a minimum disability. Symptoms The signs and symptoms of muscular dystrophy can cause muscle weakness, apparent lack of coordination and paralysis gradually, resulting fixations (contractures) of the muscles surrounding the joints and loss of mobility. Limb-girdle muscular dystrophy (LGMD) defects occur in the protein pathways involved in several biological function of muscles and can be divided into groups according to cellular localization.

These include proteins linked to the sarcolemma proteins associated with the contractile apparatus, and many enzymes involved in muscle function. However, although the main defect in many LGMD is known, the exact mechanism leading to the dystrophic phenotype has not always been clarified. the function of specific proteins and anomalies are discussed below with each DMC. No specific treatment is available for all syndromes DMC. Treatment of CGD mainly on physical devices, and monitoring of cardiac and respiratory complications, is basically the same in all forms of the disease.

Management prolong survival and improve quality of life includes weight control to avoid obesity, physical therapy and stretching exercises to promote mobility and prevent contractures. Use mechanical aids to assist walking and mobility. Patients who develop an equinus deformity of the foot may benefit from tendon lengthening surgery and / or orthotic knee-ankle-foot orthoses or ankle-foot to maintain mobility. Orthopedic surgery may be needed to help correct or prevent contractures and scoliosis. Genetic counseling is often helpful to patients and families to assist in family planning decisions.