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Condition report · Musculoskeletal

Distal Myopathy

A group of rare, inherited muscle disorders characterized by progressive weakness and wasting that predominantly affect muscles in the distal limbs (hands, feet, forearms, and lower legs).

A condition report looks for rare variants known to cause the conditions it covers.

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The 6 conditions we analyse

Distal myopathy

A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

Genes analysed

Also known as

distal muscular dystrophy; Miyoshi muscular dystrophy

Specific forms also covered

  • Distal Myopathy, Welander Type

    Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

    TIA1

  • Miyoshi Myopathy

    Autosomal recessive

    A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.

    ANO5

  • Gne Myopathy

    Autosomal recessive

    Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.

    GNE

  • Adult-Onset Distal Myopathy Due To Vcp Mutation

    Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Includes 36 related subtypes ↓
  • adult-onset distal myopathy due to VCP mutation
  • asymetric thumb-handgrip weakness-distal myopathy
  • asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome
  • autosomal dominant distal myopathy
  • calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
  • distal myopathy with anterior tibial onset
  • distal myopathy with posterior leg and anterior hand involvement
  • distal myopathy with vocal cord weakness
  • distal myopathy, Tateyama type
  • distal myopathy, Welander type
  • Finnish upper limb-onset distal myopathy
  • GNE myopathy
  • KLHL9-related early-onset distal myopathy
  • Miyoshi muscular dystrophy 1
  • Miyoshi muscular dystrophy 2
  • Miyoshi muscular dystrophy 3
  • Miyoshi myopathy
  • MYH7-related skeletal myopathy
  • myofibrillar myopathy 2
  • myofibrillar myopathy 3
  • myofibrillar myopathy 4
  • myopathy, distal, 5
  • myopathy, distal, 6, adult-onset, autosomal dominant
  • myopathy, distal, 7, adult-onset, X-linked
  • myopathy, distal, infantile-onset
  • myopathy, distal, with rimmed vacuoles
  • myopathy, myofibrillar, 9, with early respiratory failure
  • nebulin-related early-onset distal myopathy
  • oculopharyngodistal myopathy
  • oculopharyngodistal myopathy 1
  • oculopharyngodistal myopathy 2
  • oculopharyngodistal myopathy 3
  • oculopharyngodistal myopathy 4
  • oculopharyngodistal myopathy 5
  • TARDBP-related predominantly upper-limb distal myopathy
  • tibial muscular dystrophy
MONDO:0018949Orphanet 599MedGen 155541

VCP multisystem proteinopathy (inclusion body myopathy with Paget disease of bone and frontotemporal dementia)

Autosomal dominant

A condition caused by VCP variants that can combine adult-onset muscle weakness with Paget disease of bone and frontotemporal dementia.

Genes analysed

Also known as

IBMPFD; inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia; inclusion body myopathy/Paget disease/frontotemporal dementia; limb-girdle muscular dystrophy with Paget disease of bone; pagetoid amyotrophic lateral sclerosis; pagetoid neuroskeletal syndrome

Includes 4 related subtypes ↓
  • inclusion body myopathy and brain white matter abnormalities
  • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
  • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
  • inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
MONDO:0000507Orphanet 52430MedGen 322251

Limitations

  • Oculopharyngodistal myopathies are caused by CGG repeat expansions (in LRP12, GIPC1, NOTCH2NLC and RILPL1) that short-read whole genome sequencing cannot reliably detect, so a negative result does not rule them out.

Other musculoskeletal conditions

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