Gamstorp-Wohlfart syndrome

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.

Signs and symptoms

• Neuromyotonia
• Elevated circulating creatine kinase activity
• Distal sensory impairment
• Abnormal foot morphology
• Skeletal muscle atrophy
• Muscle stiffness
• Muscle spasm
• Fasciculations
• Sensory axonal neuropathy
• Foot dorsiflexor weakness

Also known as: autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting