Neuromyotonia and Axonal Neuropathy, Autosomal Recessive (NMAN)

Neuromyotonia and Axonal Neuropathy, Autosomal Recessive, also known as autosomal recessive axonal neuropathy with neuromyotonia, is related to axonal neuropathy and myotonia, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Neuromyotonia and Axonal Neuropathy, Autosomal Recessive is HINT1 (Histidine Triad Nucleotide Binding Protein 1), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include spinal cord and brain, and related phenotypes are myotonia and distal lower limb muscle weakness