Distal Spinal Muscular Atrophy Type 3

Description

Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.

Clinical Features

Top most frequent phenotypes and symptoms related to Distal Spinal Muscular Atrophy Type 3

  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Hyperlordosis
  • Paralysis
  • Distal muscle weakness
  • Limb muscle weakness
  • Lower limb muscle weakness

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

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

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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