Search
muscular dystrophy
Etiology:
1) limb-girdle muscular dystrophy
2) Duchenne muscular dystrophy
3) Becker muscular dystrophy
4) Emery-Driefuss muscular dystrophy
5) facioscapulohumeral muscular dytrophy
6) distal myopathy
7) myotonic dystrophy
8) proximal myotonic myopathy
9) oculopharyngeal muscular dystrophy
Genetics:
- implicated genes/proteins
- MBNL, DMPK
Complications:
- nocturnal ventilatory impairment may precede awakend-state hypoventilation
- increased risk for certain cancers
- 8-fold risk for endometrial cancer
- 5-fold risk for brain tumors & ovarian cancers,
- 3-fold risk for colon cancer [2]
Related
muscle atrophy (amyotrophy)
Specific
Becker muscular dystrophy
distal myopathy
distal myopathy with anterior tibial onset
Duchenne muscular dystrophy (pseudohypertrophic)
Emery-Dreifuss muscular dystrophy
facioscapulohumeral dystrophy (FSHD)
Fukuyama congenital muscular dystrophy (FCMD); Walker-Warburg syndrome FKTN-related
limb-girdle muscular dystrophy; Erb's muscular dystrophy
Miyoshi myopathy; late-onset distal muscular dystrophy; distal myopathy, Nonaka type
muscular dystrophy type 1C (MDC1C)
muscular dystrophy type 1D (MDC1D)
muscular dystrophy-dystroglycanopathy congenital with brain & eye anomalies A8 (MDDGA8)
muscular dystrophy-dystroglycanopathy congenital without mental retardation type B4 (MDDGB4)
muscular dystrophy-dystroglycanopathy type A12 (MDDGA12)
oculopharyngeal muscular dystrophy
tardive tibial muscular dystrophy (Udd myopathy)
Ullrich myopathy; Ullrich congenital muscular dystrophy; Ullrich scleroatonic muscular dystrophy
General
genetic disease of muscle (inherited myopathy)
References
- Medical Knowledge Self Assessment Program (MKSAP) 15,
American College of Physicians, Philadelphia 2009
- Gadalla SM et al
Cancer Risk Among Patients With Myotonic Muscular Dystrophy
JAMA. 2011;306(22):2480-2486
PMID: 22166607
http://jama.ama-assn.org/content/306/22/2480.short
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
What are the types of muscular dystrophy?
https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/types