DUCHENNE MUSCULAR DYSTROPHY

Question 1

What is  DUCHENNE MUSCULAR DYSTROPHY?

Accepted Answer

rare (1:3000)

X-linked recessive

mutation in the gene encoding dystrophin

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Muskeldystrophie Typ Duchenne; Dystrophinopathie vom Typ Duchenne

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 310200

Question 4

Which enzymes are involved?

Accepted Answer

Dystrophin, Latent-transforming growth factor beta-binding protein 4

Disease	DUCHENNE MUSCULAR DYSTROPHY
Synonym	MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES; MUSCULAR DYSTROPHY, CHILDHOOD PSEUDOHYPER
OMIM	310200 OMIM = Online Mendelian Inheritance of Men
Orphanet	98896
Protein (UniProt)	Dystrophin, Latent-transforming growth factor beta-binding protein 4
Gene locus	Xp21.2-p21.1
ICD	G71.0
Summary	rare (1:3000) X-linked recessive mutation in the gene encoding dystrophin
Laboratory findings	Creatine kinase inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, dilated ECG abnormalities [-] EMG abnormalities [-] hyporeflexia hypotonia mental retardation muscle weakness myopathy onset, childhood respiratory insufficiency