distal myopathy with posterior leg and anterior hand involvement
Findings
No curated finding names distal myopathy with posterior leg and anterior hand involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
Definition from the Mondo Disease Ontology (MONDO:0013550), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
22 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.
- Exercise-induced myalgiaHPOHP:0003738
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Hyporeflexia of lower limbsHPOHP:0002600
- Very frequent (80% to 99% of cases)
- Inability to walkHPOHP:0002540
- Very frequent (80% to 99% of cases)
- Intrinsic hand muscle atrophyHPOHP:0008954
- Very frequent (80% to 99% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
Show the remaining 10
- Abnormality of the cardiovascular systemHPOHP:0001626
- Occasional (5% to 29% of cases)
- CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
- Decreased finger mobilityHPOHP:0006135
- Occasional (5% to 29% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Occasional (5% to 29% of cases)
- Fatiguable weakness of proximal limb musclesHPOHP:0030200
- Occasional (5% to 29% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
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.
- FLNCHGNC:3756
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: distal myopathy with posterior leg and anterior hand involvement
- Also called
- distal ABD-filaminopathymyopathy, distal, type 4