Abstract
The clinical presentation of facioscapulohumeral dystrophy (FSHD) with unusual large 4q35 deletions was studied with attention to hearing loss.
Highlights
The clinical presentation of facioscapulohumeral dystrophy (FSHD) with unusual large 4q35 deletions was studied with attention to hearing loss
CMT1A is a demyelinating neuropathy characterized by progressive muscle weakness and atrophy
The peroneal muscles are involved first, causing a striking stork-like gait, and weakness and atrophy of the upper extremities is initially limited to the intrinsic muscles of the hands
Summary
The clinical presentation of facioscapulohumeral dystrophy (FSHD) with unusual large 4q35 deletions was studied with attention to hearing loss. CMT1A is a demyelinating neuropathy characterized by progressive muscle weakness and atrophy. The peroneal muscles are involved first, causing a striking stork-like gait, and weakness and atrophy of the upper extremities is initially limited to the intrinsic muscles of the hands. The authors comment that the hand involvement is frequently under-recognized in the early stages.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
