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. [ Orphanet:171445 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080096 (MONDO:equivalentTo)
  • MESH:C537932 (MONDO:equivalentTo)
  • Orphanet:171445 (OMIM:609524)
  • ICD10:G71.8 (Orphanet:171445)
  • OMIM:609524 (Orphanet:171445)
Subsets

ordo_disease

clingen preferred
myofibrillar myopathy 5

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080096

http://www.orpha.net/ORDO/Orphanet_171445

http://identifiers.org/mesh/C537932

https://omim.org/entry/609524

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql

has exact synonym

filaminopathy

myofibrillar myopathy 5

FLNC myofibrillar myopathy (disease)

myopathy, myofibrillar, type 5

myofibrillar myopathy (disease) caused by mutation in FLNC

myofibrillar myopathy type 5

has related synonym

muscle filaminopathy

MFM5

myopathy, myofibrillar, filamin C-related

filaminopathy, autosomal dominant

myopathy, myofibrillar, 5

id

MONDO:0012289