#autosomal_recessive_axonal_neuropathy_with_neuromyotonia
Autosomal recessive axonal neuropathy with neuromyotonia
Medical condition
Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases have been reported since 2014.
Fri 16th
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