Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy

J Neurol. 1999 Feb;246(2):107-12. doi: 10.1007/s004150050316.

Abstract

A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Axons / pathology
  • Child
  • Consanguinity
  • Disease Progression
  • Electrophysiology
  • Female
  • Foot Deformities, Acquired / etiology
  • Foot Ulcer / etiology
  • Genes, Recessive*
  • Germany
  • Hand Deformities, Acquired / etiology
  • Hereditary Sensory and Motor Neuropathy / classification
  • Hereditary Sensory and Motor Neuropathy / epidemiology
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Middle Aged
  • Neural Conduction
  • Pedigree
  • Turkey / ethnology