Batten Turner muscular dystrophy
Overview
A benign form of congenital muscular dystrophy involving relatively minor muscle wasting. The condition progresses slowly until adulthood.
Symptoms
* Infant floppiness * Frequent falling * Stumbling * Early motor development * Mild delay in milestone achievement
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.
Diagnosis
* Infant floppiness * Frequent falling * Stumbling * Early motor development * Mild delay in milestone achievement * Muscular weakness * Hypotonia