Distal muscular dystrophy

Distal muscular dystrophy
Distal muscular dystrophy
Classification and external resources
ICD-10 G71.0
ICD-9 359.1
OMIM 254130 604454 606768
DiseasesDB 31977 33507
MeSH D049310

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  ? at 2p13[3]

DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.[4]

See also

References

  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. http://linkinghub.elsevier.com/retrieve/pii/S0387-7604(05)00034-3. 
  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. PMID 14762596. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600011&lng=en&nrm=iso&tlng=en. 
  3. ^ 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. 
  4. ^ 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

v · d · eMuscular dystrophy
The Nine Primary Muscular Dystrophies
Related topics
National/International Organizations
US government Institutes and Legislation
National/International Events
Recent or Ongoing Clinical Trials

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)
v · d · eDiseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
Neuromuscular-
junction disease
autoimmune (Myasthenia gravis, Lambert–Eaton myasthenic syndrome)
Myopathy/
congenital myopathy
AD
AR
Other structural
Hypokalemic (Thyrotoxic) · Hyperkalemic
Other
MELAS · MERRF · KSS · PEO
Other

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)
v · Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)
Arrestin
Myelin
Pelizaeus–Merzbacher disease · Dejerine-Sottas disease · Charcot–Marie–Tooth disease 1B, 2J
Pulmonary surfactant
Cell adhesion molecule

IgSF CAM: OFC7

Cadherin: DSG1 (Striate palmoplantar keratoderma 1) · DSG2 (Arrhythmogenic right ventricular dysplasia 10) · DSG4 (LAH1) · DSC2 (Arrhythmogenic right ventricular dysplasia 11)

Integrin: see cell surface receptor deficiencies
Tetraspanin
TSPAN7 (X-Linked mental retardation 58) · TSPAN12 (Familial exudative vitreoretinopathy 5)
Other
KIND1 (Kindler syndrome) · HFE (HFE hereditary hemochromatosis) · DYSF (Distal muscular dystrophy, Limb-girdle muscular dystrophy 2B)
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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