KLHL9-related early-onset distal myopathy
Findings
No curated finding names KLHL9-related early-onset distal myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.
Definition from the Mondo Disease Ontology (MONDO:0018370), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Ankle flexion contractureHPOHP:0006466
- Very frequent (80% to 99% of cases)
- Distal sensory impairmentHPOHP:0002936
- Very frequent (80% to 99% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Progressive distal muscle weaknessHPOHP:0009063
- Very frequent (80% to 99% of cases)
- Weakness of the intrinsic hand musclesHPOHP:0009005
- Very frequent (80% to 99% of cases)
- Abnormal calf musculature morphologyHPOHP:0001430
- Frequent (30% to 79% of cases)
Show the remaining 5
- Intrinsic hand muscle atrophyHPOHP:0008954
- Frequent (30% to 79% of cases)
- Steppage gaitHPOHP:0003376
- Frequent (30% to 79% of cases)
- Absent Achilles reflexHPOHP:0003438
- Occasional (5% to 29% of cases)
- Loss of ambulationHPOHP:0002505
- Very rare (1% to 4% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Very rare (1% to 4% of cases)
Where it sits
- A kind of