Distal muscular dystrophies, including:
Welander distal myopathy (WDM);
Tibial muscular dystrophy (TMD);
Nonaka distal myopathy with rimmed vacuoles (DMRV);
Miyoshi myopathy (MM);
Laing myopathy (MPD1);
Distal nebulin myopathy (DNM);
Distal desminopathy (MFM1);
alpha-B Crystallinopathy (MFM2);
Distal myotilinopathy (MFM3);
Distal zaspopathy (MFM4);
Distal myopathy 3 (MPD2, VCPDM)

Distal dystrophies-distal myopathies are a group of heterogeneous inherited primary muscle disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. Clinical presentation is characterized by progressive muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have been associated with distal phenotypes only, whereas the other genes can manifest also with other than distal phenotypes. Most of the genes code for structural and functional components of the sarcomere. The genes responsible for the pathologically defined category of myofibrillar myopathy are frequently display a distal phenotype.

Musculoskeletal disease; Nervous system disease

(TMD) TTN [HSA:7273] [KO:K12567]
(DMRV) GNE [HSA:10020] [KO:K12409]
(MM1) DYSF [HSA:8291]
(MM3) ANO5 [HSA:203859]
(MPD1) MYH7 [HSA:4625] [KO:K10352]
(DNM) NEB [HSA:4703]
(MFM1) DES [HSA:1674] [KO:K07610]
(MFM2) CRYAB [HSA:1410] [KO:K09542]
(MFM3) TTID [HSA:9499]
(MFM4) ZASP [HSA:11155]
(MPD2) MATR3 [HSA:9782] [KO:K13213]

For myofibrillar myopathies, see H00595.

PMID:20225017 (description)

Udd B

Genetics and pathogenesis of distal muscular dystrophies.

Adv Exp Med Biol 652:23-38 (2009)

PMID:17029922 (gene, description)

Udd B

Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.

Biochim Biophys Acta 1772:145-58 (2007)

PMID:18974558 (description)

Malicdan MC, Nonaka I

Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.

Neurol India 56:314-24 (2008)

PMID:17132147 (gene)

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Traffic 8:77-88 (2007)