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tardive tibial muscular dystrophy (Udd myopathy)
Genetics:
1) autosomal dominant
2) 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:
1) late-onset distal myopathy
2) muscle weakness & atrophy generally confined to anterior compartment of lower leg, i.e. tibialis anterior muscle
3) symptoms usually occur at age 35-45 years or much later
General
muscular dystrophy
Database Correlations
OMIM 600334
References
OMIM :accession 600334