Autosomal recessive axonal neuropathy with neuromyotonia
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| Autosomal recessive axonal neuropathy with neuromyotonia | |
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| Other names | Gamstorp-Wohlfart syndrome, Myokymia, myotonia, and muscle wasting, ARAN-NM, ARCMT2-NM, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, NMAN[1] |
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| Specialty | Medical genetics |
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.[2] According to OMIM, around 52 cases have been reported in medical literature[3] However; new cases (mostly from Europe and North America) have been reported since 2014.[4][5][6][7]
People with this disorder usually show the following symptoms: axonal neuropathy, atrophy (wasting/degeneration) of the muscles in the hands, feet and legs, chronic muscular weakness which is very apparent when exercise is being done, abnormal gait, high chance of accidental falls, and joint contractures, neuromyotonia, and myokymia. In some people, the axonal neuropathy ends up reducing their sensitivity to cold and hot temperatures and touch in the distal parts of the arms and legs.[8][9] Some of the symptoms worsen temporarily when a person with this disorder is exposed to cold temperatures.[10]