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Browse result for Muscular dystrophy

※ introduction

    Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs. Over 30 different disorders are classified as muscular dystrophies. Of those, Duchenne muscular dystrophy (DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb¨Cgirdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several ¨C usually extremely rare ¨C genetic disorders. Muscular dystrophies are caused by mutations in genes, usually those involved in making muscle proteins. The muscle protein, dystrophin, is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax. It links the muscle membrane to the thin muscular filaments within the cell. Dystrophin is an integral part of the muscular structure. An absence of dystrophin can cause impairments: healthy muscle tissue can be replaced by fibrous tissue and fat, causing an inability to generate force. Respiratory and cardiac complications can occur as well. These mutations are either inherited from parents or may occur spontaneously during early development. Muscular dystrophies may be X-linked recessive, autosomal recessive, or autosomal dominant. Diagnosis often involves blood tests and genetic testing. There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are currently available including gene therapy (Elevidys), and antisense drugs (Ataluren, Eteplirsen etc.). Other medications used include glucocorticoids (Deflazacort, Vamorolone); calcium channel blockers (Diltiazem); to slow skeletal and cardiac muscle degeneration, anticonvulsants to control seizures and some muscle activity, and Histone deacetylase inhibitors (Givinostat) to delay damage to dying muscle cells. Physical therapy, braces, and corrective surgery may help with some symptoms while assisted ventilation may be required in those with weakness of breathing muscles. Outcomes depend on the specific type of disorder. Many affected people will eventually become unable to walk and Duchenne muscular dystrophy in particular is associated with shortened life expectancy. Muscular dystrophy was first described in the 1830s by Charles Bell. The word "dystrophy" comes from the Greek dys, meaning "no, un-" and troph- meaning "nourish".

Reference
Wiki: Muscular dystrophy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00500P025454000
LMNA
Prelamin-A/C [Cleaved into: Lamin-A/C ]
Homo sapiens
PTMD00379P040353156
HMGCR
3-hydroxy-3-methylglutaryl-coenzyme A reductase
Homo sapiens
PTMD00912P550727415
VCP
Transitional endoplasmic reticulum ATPase -ATPase p97 subunit)
Homo sapiens
PTMD00824Q9UKX24620
MYH2
Myosin-2
Homo sapiens
PTMD00340P027512335
FN1
Fibronectin [Cleaved into: Anastellin; Ugl-Y1; Ugl-Y2; Ugl-Y3]
Homo sapiens
PTMD01277O4350511041
B4GAT1
Beta-1,4-glucuronyltransferase 1
Homo sapiens
PTMD01547P20807825
CAPN3
Calpain-3
Homo sapiens
PTMD01845Q8WZ427273
TTN
Titin
Homo sapiens
PTMD03214O759238291
DYSF
Dysferlin
Homo sapiens
PTMD03312O9490624148
PRPF6
Pre-mRNA-processing factor 6
Homo sapiens
PTMD03503O957499453
GGPS1
Geranylgeranyl pyrophosphate synthase -farnesyl diphosphate synthase)
Homo sapiens
PTMD06914Q151495339
PLEC
Plectin
Homo sapiens
PTMD07112Q165856443
SGCB
Beta-sarcoglycan
Homo sapiens
PTMD07615Q5JTV826092
TOR1AIP1
Torsin-1A-interacting protein 1
Homo sapiens
PTMD08662Q75V6620385
ANO5
Anoctamin-5
Homo sapiens
PTMD08781Q7Z39260684
TRAPPC11
Trafficking protein particle complex subunit 11
Homo sapiens
PTMD08834Q7Z4I755679
LIMS2
LIM and senescent cell antigen-like-containing domain protein 2
Homo sapiens
PTMD09930Q8NBL156983
POGLUT1
Protein O-glucosyltransferase 1
Homo sapiens
PTMD09985Q8NCR014878
B3GALNT2
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
Homo sapiens
PTMD10700Q8WZA155624
POMGNT1
Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
Homo sapiens
PTMD13003Q9H9S579147
FKRP
Ribitol 5-phosphate transferase FKRP
Homo sapiens
PTMD14614Q9Y2591120
CHKB
Choline/ethanolamine kinase
Homo sapiens
PTMD14962Q9Y5P629925
GMPPB
Mannose-1-phosphate guanyltransferase beta
Homo sapiens
PTMD15031Q9Y6A110585
POMT1
Protein O-mannosyl-transferase 1
Homo sapiens
PTMD01280Q6216513138
Dag1
Dystroglycan 1 [Cleaved into: Alpha-dystroglycan ; Beta-dystroglycan ]
Mus musculus