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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2016
Symbol DHMN7A
Location 2q12.3
Name distal hereditary motor neuronopathy, type 7
Other name(s) hereditary distal spinal muscular atrophy with vocal cord paralysis
Corresponding gene SLC5A7
Other symbol(s) DHMNVP, DSMA7, HMN7A
Main clinical features
  • axonal, characterized by onset in the teens, with weakness and wasting of small muscles of hand and feet
  • associated with diaphragm and unilateral or bilateral vocal cord paralysis, normal motor and sensory nerve conduction velocities, slowly progressive
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease