distal myopathy with anterior tibial onset
MONDO:0011721Mondo
Findings
No curated finding names distal myopathy with anterior tibial onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Rapidly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Very frequent (80% to 99% of cases)
- Absent muscle fiber dysferlinHPOHP:0030114
- Very frequent (80% to 99% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
- Progressive proximal muscle weaknessHPOHP:0009073
- Frequent (30% to 79% of cases)
- Tibialis muscle weaknessHPOHP:0008963
- Frequent (30% to 79% of cases)
- Absent Achilles reflexHPOHP:0003438
- Occasional (5% to 29% of cases)
- Intrinsic hand muscle atrophyHPOHP:0008954
- Occasional (5% to 29% of cases)
- Limb-girdle muscle weaknessHPOHP:0003325
- Occasional (5% to 29% of cases)
- Weakness of the intrinsic hand musclesHPOHP:0009005
- Occasional (5% to 29% of cases)
- Finger flexor weaknessHPOHP:0031177
- Very rare (1% to 4% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Loss of ambulationHPOHP:0002505
- Adult onset
Reported absent (3)
- Neck muscle weaknessHPOHP:0000467
- Rimmed vacuolesHPOHP:0003805
- Somatic sensory dysfunctionHPOHP:0003474
Show the remaining 2
- MyopathyHPOHP:0003198
- Proximal muscle weaknessHPOHP:0003701
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.
- DYSFHGNC:3097
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
1 name
Resolves to: distal myopathy with anterior tibial onset
- Also called
- distal anterior compartment myopathy