Distal myopathies: types and differentials

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Distal myopathies: types and differentials. Miyoshi, Welander, Udd, Markesbery-Griggs, Nonaka, Laing. Fully referenced neurology checklist.

Types of distal myopathies

  • Miyoshi
  • Welander
  • Udd
  • Markesbery-Griggs
  • Nonaka
  • Laing
  • Oculopharyngodistal
  • Distal myopathy with cachexia
  • Distal myopathy with nebulin gene mutation
  • Tibial muscular dystrophy (TMD)
  • Actinopathy
  • Distal dominant myopathy (DDM)

Differential diagnosis

Locked: subscribe to see this section.

References

  1. Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
  2. Malicdan MCV, Nonaka I. Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
  3. Pitceathly RDS, Tomlinson SE, Holton JL, et al. Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations. JNNP 2013; 84:107-110.
  4. Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin 2014; 32:817-842.
  5. Wallgren-Pettersson C, Lehtokari VL, Kalimo H et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007; 130:1465-1476.
  6. And 3 more. Subscribe to see the full list

Related checklists

Loading...