tardive tibial muscular dystrophy (Udd myopathy)

Genetics

• autosomal dominant
• associated with defects in titin gene
  • homozygous mutations in the titin gene cause limb-girdle muscular dystrophy LGMD2J, while heterozygous mutations cause tardive tibial muscular dystrophy

Clinical manifestations

• late-onset distal myopathy
• muscle weakness & atrophy generally confined to anterior compartment of lower leg, i.e. tibialis anterior muscle
• symptoms usually occur at age 35-45 years or much later

More general terms

• muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/600334