tibial muscular dystrophy
Findings
No curated finding names tibial muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.
Definition from the Mondo Disease Ontology (MONDO:0010870), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Tibialis anterior muscle atrophyHPOHP:0011399
- 71 of 71 reported patients
- Tibialis muscle weaknessHPOHP:0008963
- 71 of 71 reported patients
- Ankle weaknessHPOHP:0031374
- Frequent (30% to 79% of cases)
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Gait disturbance
Show the remaining 7
- Rimmed vacuolesHPOHP:0003805
- Frequent (30% to 79% of cases)
- Steppage gaitHPOHP:0003376
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Occasional (5% to 29% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Occasional (5% to 29% of cases)
- Quadriceps muscle weaknessHPOHP:0003731
- Occasional (5% to 29% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTNHGNC:12403
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: tibial muscular dystrophy
- Also called
- distal myopathy, Udd typedistal titinopathyFinnish tibial muscular dystrophytardive tibial muscular dystrophyTMDUdd myopathy