benign congenital hypotonia
Last reviewed 01/2018
Benign congenital hypotonia is a very rare condition which may be inherited in an autosomal dominant fashion.
Presentation is often as a non-progressive limb girdle weakness that initially delays gross motor development then improves in later childhood. In severe cases presentation is with a floppy baby. There are no fasciculations.
Diagnosis is made on muscle biopsy. EMG and CPK are normal.
Other causes of a floppy baby must be excluded.