Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3; Dsma3

Description

Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (OMIM ).Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006).

Clinical Features

Phenotypes and symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3; Dsma3

  • Hyperlordosis
  • Distal amyotrophy
  • Spinal muscular atrophy
  • EMG: neuropathic changes
  • Distal lower limb muscle weakness
  • Reduced vital capacity
  • Diaphragmatic weakness
  • Interosseus muscle atrophy

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Alternate names

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3; Dsma3 Is also known as neuronopathy, distal hereditary motor, type iv;hmn4, dhmn4, neuropathy, distal hereditary motor, type iv, hmn iv, neuronopathy, distal hereditary motor, type iii;hmn3, dhmn3, hmn iii;autosomal recessive distal spinal muscular atrophy type 3; distal hereditary motor neuropathy type 3 and type 4; dhmn3 and dhmn4; dsma3.


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