Distal muscular dystrophy

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Distal muscular dystrophy
Classification and external resources
ICD-10 G71.0
ICD-9 359.1
OMIM 254130 604454 606768
DiseasesDB 31977 33507
MeSH D049310
GeneReviews

Distal muscular dystrophy (or distal myopathy) is a group of disorders characterized by onset in the hands or feet. Many types involve dysferlin, but it has been suggested that not all cases do.[1]

Types include:

Name OMIM Locus
Miyoshi myopathy (in Japan)[2] 254130 DYSF at 2p13.3-p13.1
Distal myopathy with anterior tibial onset 606768 DYSF at 2p13.3-p13.1
Welander distal myopathy 604454 TIA1[3] at 2p13[4]

DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.[5]

Distal muscular dystrophy is a type of muscular dystrophy that affects the muscles of the extremities, the hands, feet, lower arms, or lower legs. The cause of this dystrophy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. Along with being able to inherit the mutated gene, distal muscular dystrophy has slow progress therefore the patient may not know that they have it until they are in their late 40’s or 50’s. There are eight known types of distal muscular dystrophy. They are Welander’s distal myopathy, Finnish (tibial) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers-Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy. All of these affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old. Doctors are still trying to determine what causes these mutations along with effective treatments.

References[edit]

  1. ^ Murakami N, Sakuta R, Takahashi E, et al. (December 2005). "Early onset distal muscular dystrophy with normal dysferlin expression". Brain Dev. 27 (8): 589–91. doi:10.1016/j.braindev.2005.02.002. PMID 16310593. 
  2. ^ Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower limbs: the clinical variant of Miyoshi". Arq Neuropsiquiatr 61 (4): 946–9. doi:10.1590/S0004-282X2003000600011. PMID 14762596. 
  3. ^ Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edsröm L & Udd B (January 2013). "Welander Distal Myopathy Is Caused by a Mutation in the RNA-Binding Protein TIA1". Annals of Neurology 73 (4): 500–509. doi:10.1002/ana.2383. PMID 23401021. 
  4. ^ von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G (August 2003). "Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus". Neurogenetics 4 (4): 173–7. doi:10.1007/s10048-003-0154-z. PMID 12836053. 
  5. ^ Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. doi:10.1007/s004150050557. PMID 10787109. 

External links[edit]