Landouzy-Dejerine muscular dystrophy
Overview
A rare inherited neuromuscular disorder characterized mainly by progressive weakness and wasting of facial and shoulder and upper arm muscles. A rare form of the condition is noticeable at infancy and progresses rapidly.
Symptoms
* Difficulty closing eyes * Difficulty sucking through straw * Difficulty blowing cheeks * Difficulty whistling * Shoulder muscle weakness * Pelvic muscle weakness * Leg muscle weakness * Pouty lips * Funnel chest * Flat facial expression * Scapulae winging * Muscle wasting * Weak facial muscles * Drooping eyelids
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.
Prognosis
Prognosis of Landouzy-Dejerine muscular dystrophy: generally a slowly progressing condition
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.