Gamstorp-Wohlfart syndrome

Term ID

DOID:0050526

Synonyms

• autosomal recessive neuromyotonia and axonal neuropathy
• myokymia, myotonia and muscle wasting

Definition

A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia

References

• GARD:12353
• MIM:137200

Ontology

Human Disease   ( DOID:0050526 )