An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the TRIM32 protein .
* Back pain * Fatigue * Waddling gait * Limb-girdle muscle weakness * Proximal arm muscle weakness * Proximal leg muscle weakness * Back pain * Fatigue * Waddling gait * Limb-girdle muscle weakness * Proximal arm muscle weakness * Proximal leg muscle weakness
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 2H: slow progression with wheelchair confinement usually in 4th decade or later
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.
Myopathy Hutterite type: Another name for Limb-girdle muscular dystrophy type 2H