Dystrophinopathy
Overview
An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
Symptoms
* Abnormal gait * Duck-like waddle * Toe walking * Difficulty walking * Frequent falls * Gower's sign * Muscle weakness * Scoliosis * Lordosis * Pseudohypertrophy of calf muscles * Contractures of Achilles tendon * Weak shoulder muscles * Weak intercostal muscles * Weak pelvic muscles * Weak back muscles * Weak neck muscles * Contractures of iliopsoas * Contractures of hamstrings * Contractures of forearm flexors * Contractures of fingers flexors * Atrophy of arm muscle * Atrophy of thigh muscles * Atrophy of pectoral muscles * Weakness of mouth muscles * Weakness of facial muscles * Dyslexia * Dysphagia * Dysarthria * Speech difficulty
Causes
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.
Diagnosis
signs and symptoms of Muscular dystrophy, Duchenne and Becker type may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Muscular dystrophy, Duchenne and Becker type symptoms.
Treatment
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.