Details of Disease

General Information of Disease (ID: DISPBT0K)

• Disease Name: X-linked myopathy with postural muscle atrophy
• Synonyms: myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6, X-linked; Ehlers-Danlos syndrome, classic-like, 1; X-linked myopathy with postural muscle atrophy; XMPMA; myopathy, X-linked, with postural muscle atrophy, X-linked recessive
• Definition: X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
• Disease Hierarchy:
  DISDPMZ3: X-linked Emery-Dreifuss muscular dystrophy
  DISBL9ZU: FHL1-related myopathy
  DISPBT0K: X-linked myopathy with postural muscle atrophy
• Disease Identifiers:
  MONDO ID: MONDO_0010401
  MESH ID: D000083143
  UMLS CUI: C2678055
  OMIM ID: 300696
  MedGen ID: 395525
  Orphanet ID: 178461
  SNOMED CT ID: 773729007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FHL1	TTI7ENL	Limited	Biomarker	[1]
FHL1	TTI7ENL	Definitive	X-linked	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FHL1	OTN535SU	Definitive	X-linked	[2]

References

• [1] Four and a half LIM domain protein signaling and cardiomyopathy.Biophys Rev. 2018 Aug;10(4):1073-1085. doi: 10.1007/s12551-018-0434-3. Epub 2018 Jun 20.
• [2] Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy. Hum Mutat. 2022 Sep;43(9):1234-1238. doi: 10.1002/humu.24415. Epub 2022 Jul 16.