myofibrillar myopathy 5
Findings
No curated finding names myofibrillar myopathy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
Definition from the Mondo Disease Ontology (MONDO:0012289), read 2026-09-29. CC BY 4.0.
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.
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Very frequent (80% to 99% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Very frequent (80% to 99% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 10
- Joint contractureHPOHP:0034392
- Occasional (5% to 29% of cases)
- Left ventricular diastolic dysfunctionHPOHP:0025168
- Occasional (5% to 29% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Occasional (5% to 29% of cases)
- Peripheral neuropathyHPOHP:0009830
- Occasional (5% to 29% of cases)
- Scapular wingingHPOHP:0003691
- Occasional (5% to 29% of cases)
- Weakness of facial musculatureHPOHP:0030319
- Occasional (5% to 29% 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.
- FLNCHGNC:3756
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: myofibrillar myopathy 5
- Also called
- FLNC myofibrillar myopathy (disease)myofibrillar myopathy (disease) caused by mutation in FLNCmyofibrillar myopathy type 5myopathy, myofibrillar, type 5