Distal muscular dystrophy
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:
DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.[4]
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 dominant. 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 effect 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
- ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0387-7604(05)00034-3.
- ^ 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. PMID 14762596. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600011&lng=en&nrm=iso&tlng=en.
- ^ 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. http://link.springer.de/link/service/journals/00415/bibs/0247003/02470169.htm.
External links
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| The Nine Primary Muscular Dystrophies |
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anat (h/n, u, t/d, a/p, l)/phys/devp/hist
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noco(m, s, c)/cong(d)/tumr, sysi/epon, injr
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| Arrestin |
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| Myelin |
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| Pulmonary surfactant |
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| Cell adhesion molecule |
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| Tetraspanin |
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| Other |
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see also other cell membrane proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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