Muscular dystrophy- limb-girdle- type 1A
An autosomal dominant form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the myotilin gene.
Nasal voice Achilles tendon contractures Upper limb girdle muscle weakness Upper limb girdle muscle wasting Lower limb muscle weakness Lower limb muscle wasting
Muscular dystrophy is caused by various genetic mechanisms. Duchenne’s and Becker’s muscular dystrophies are X-linked recessive disorders. Both result from defects in the gene coding for the muscle protein dystrophin; the gene has been mapped to the Xp21 locus. The incidence muscular dystrophy is about 1 in 651,450 persons in the United States. Duchenne’s and Becker’s muscular dystrophies affect males almost exclusively. Facioscapulohumeral dystrophy is an autosomal dominant disorder. Limb-girdle dystrophy is usually autosomal recessive. These two types affect both sexes about equally.
Prognosis of Limb-girdle muscular dystrophy type 1A: slow progressing condition that doesn't lead to patients becoming wheelchair bound
No treatment stops the progressive muscle impairment of muscular dystrophy. However, orthopedic appliances, exercise, physical therapy, and surgery to correct contractures can help preserve the patient’s mobility and independence. Prednisone improves muscle strength in patients with Duchenne’s.