Details of Disease

General Information of Disease (ID: DIS0XEAW)

• Disease Name: Myofibrillar myopathy 5
• Synonyms: myopathy, myofibrillar, filamin C-related; filaminopathy, autosomal dominant; MFM5; myopathy, myofibrillar, 5; muscle filaminopathy; myofibrillar myopathy type 5; filaminopathy; FLNC myofibrillar myopathy (disease); myofibrillar myopathy 5; myofibrillar myopathy (disease) caused by mutation in FLNC; myopathy, myofibrillar, type 5
• 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.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS8CZCC: Qualitative or quantitative defects of filamin C
  DISF24LW: Myofibrillar myopathy
  DISD715V: Hereditary neurological disease
  DIS0XEAW: Myofibrillar myopathy 5
• Disease Identifiers:
  MONDO ID: MONDO_0012289
  MESH ID: C537932
  UMLS CUI: C1836050
  OMIM ID: 609524
  MedGen ID: 372186
  Orphanet ID: 171445

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLNC	OT3F8J6Y	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.