Facioscapulohumeral muscular dystrophy 1a

PROM

Also Known As:

FSHD1A; FSHMD1A; Facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles; Facioscapulohumeral muscular dystrophy, infantile; Landouzy-dejerine muscular dystrophy; Muscular dystrophy, facioscapulohumeral, type 1a

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Facioscapulohumeral Muscular Dystrophy: 284
        Facioscapulohumeral muscular dystrophy 1a: 4
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Facioscapulohumeral Muscular Dystrophy: 284
        Facioscapulohumeral muscular dystrophy 1a: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Facioscapulohumeral Muscular Dystrophy: 284
      - Facioscapulohumeral muscular dystrophy 1a: 4

Experts

1.	MacKenzie, Jennifer J: 1 article (08/2014)
2.	Piteau, Shalea J: 1 article (08/2014)
3.	Rossiter, John P: 1 article (08/2014)
4.	Smith, R Garth: 1 article (08/2014)
5.	Hauerslev, S: 1 article (09/2013)
6.	Hertz, J M: 1 article (09/2013)
7.	Krag, T O: 1 article (09/2013)
8.	Vissing, J: 1 article (09/2013)
9.	Ørngreen, M C: 1 article (09/2013)
10.	Ansseau, Eugénie: 1 article (08/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Facioscapulohumeral muscular dystrophy 1a:

1.	Apoptosis Regulatory ProteinsIBA 08/01/2007 - "The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein."
2.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 09/01/2013 - "Recently regenerating fibres, expressing neonatal myosin heavy chain and vimentin, did not differ significantly between patients with FSHD1A (1.1 ± 2.9%) and patients with BMD (1.8 ± 1.9%). "
3.	VimentinIBA 09/01/2013 - "Recently regenerating fibres, expressing neonatal myosin heavy chain and vimentin, did not differ significantly between patients with FSHD1A (1.1 ± 2.9%) and patients with BMD (1.8 ± 1.9%). "
4.	EnzymesIBA 01/01/1997 - "The gene for FSHD has been mapped to 4q35 (FSHD1A) and is closely linked to D4F1O4S1, which detects two highly polymorphic loci (located at 4q35 and 10q26), with restriction enzyme EcoRI. "
5.	Mitochondrial DNA (mtDNA)IBA 08/01/2014 - "Molecular genetic testing was performed for NEB, TPM2, TPM3, ACTA1, TNNT1, SEPN1, SMN1, DMPK, FSHMD1A, and mtDNA. "