myopathy, distal, 5
MONDO:0014877Mondo
Findings
No curated finding names myopathy, distal, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014877), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive
HPO, annotations 2026-09-02
Features
41 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.
- Distal amyotrophyHPOHP:0003693
- 4 of 4 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Hyporeflexia of lower limbsHPOHP:0002600
- 4 of 4 reported patients
- Mildly elevated creatine kinaseHPOHP:0008180
- 4 of 4 reported patients
- Muscle fiber splittingHPOHP:0003555
- 4 of 4 reported patients
Show the remaining 29
- Ankle contractureHPOHP:0034677
- Frequent (30% to 79% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Frequent (30% to 79% of cases)
- Elbow contractureHPOHP:0034391
- Frequent (30% to 79% 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.
- ADSS1HGNC:20093
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: myopathy, distal, 5
- Also called
- adenylosuccinate synthetase-like 1-related distal myopathyADSSL1 distal myopathyADSSL1-related distal myopathydistal myopathy caused by mutation in ADSSL1MPD5myopathy, distal, 5; MPD5myopathy, distal, type 5