Distal myopathy
| Distal myopathy | |
|---|---|
| Specialty | Neurology  |
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][3] | Template:OMIM2 | DYSF at 2p13.3-p13.1 |
| Distal myopathy with anterior tibial onset | Template:OMIM2 | DYSF at 2p13.3-p13.1 |
| Welander distal myopathy | Template:OMIM2 | TIA1[4] at 2p13[5] |
DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.[6]
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. [citation needed]
References
- ^ 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.
- ^ 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.
- ^ Aoki, Masashi (1 January 1993). "Dysferlinopathy". GeneReviews(®). University of Washington, Seattle. Retrieved 10 May 2016.
- ^ 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.23831. PMID 23401021.
{{cite journal}}: Unknown parameter|last-author-amp=ignored (|name-list-style=suggested) (help) - ^ 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.
- ^ Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. doi:10.1007/s004150050557. PMID 10787109.
Further reading
- Udd, Bjarne (February 2007). "Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 (2): 145–158. doi:10.1016/j.bbadis.2006.08.005. Retrieved 26 August 2016.
External links
- Slides at neuro.wustl.edu
- Jain Foundation Inc.: Research into Miyoshi/LGMD2B
- Muscular Dystrophy Association's website in Greece
- Muscular Dystrophy Association in the USA
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