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GENATLAS PHENOTYPE

last update : 11-07-2016

Symbol	NMAN
Location	5q23.3
Name	neuromyotonia and axonal neuropathy
Other name(s)	Gamstorp-Wohlfart SYNDROME myokymia, myotonia, and muscle wasting
Corresponding gene	HINT1
Main clinical features	characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves asymmetric gait impairment, foot drop, and action myotonia on fast handgrip; electrophysiological studies showed symmetrical axonal motor greater than sensory neuropathy, and neuromyotonic discharges on needle electromyography
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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