Disease Directory Distal Myopathy
Neuromuscular

Distal Myopathy

Also known as: Miyoshi myopathy, Welander distal myopathy, Laing distal myopathy, distal muscular dystrophy

Prevalence

1 in 100,000 (collectively; individual subtypes are rarer)

Onset

Variable; adolescence to late adulthood depending on subtype

Type

Autosomal recessive or dominant (subtype-dependent)

Gene

Multiple (DYSF, MYH7, GNE)

About Distal Myopathy

Distal Myopathies are a heterogeneous group of inherited muscle disorders characterised by weakness that begins in the distal muscles of the hands and feet, in contrast to the proximal pattern seen in most muscular dystrophies. Major subtypes include Miyoshi myopathy (DYSF mutations, early adult posterior calf weakness), Laing distal myopathy (MYH7 mutations, childhood anterior foot and finger weakness), and Welander distal myopathy (TIA1 mutations, predominantly seen in Scandinavians). Progression to proximal weakness occurs in most subtypes.

Common Clinical Features

Weakness beginning in the distal limbs (feet, hands, or calves depending on subtype) Foot drop or difficulty walking on tiptoes (subtype-dependent pattern) Difficulty with fine finger movements Highly elevated creatine kinase in DYSF-related subtypes Progressive spread to proximal muscles over years Calf atrophy or hypertrophy (subtype-dependent) Normal or near-normal life expectancy

Clinical Trial Eligibility Tips

What to know before applying to Distal Myopathy trials.

Subtype-specific genetic diagnosis is mandatory as each distal myopathy subtype has distinct gene targets; a comprehensive neuromuscular gene panel is preferable to single-gene testing

Muscle MRI showing a characteristic pattern of fat replacement is highly valuable for diagnosis and increasingly used as an imaging biomarker endpoint in trials

Dysferlinopathy trials (Miyoshi/LGMD R2) have an active pipeline — if DYSF is your gene, check both LGMD and distal myopathy trial categories as the same mutation causes both phenotypes

Patient Resources

Patient Organization

Jain Foundation

Visit website ↗

Natural History Registry

Jain Foundation Dysferlin Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:603)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Distal Myopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Distal Myopathy. Updated daily.

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