MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT

Question 1

What is  MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT?

Accepted Answer

rare
autosomal dominant
autosomal recessive
mutation in the desmin gene (DES)
3 types:
1) distal myopathy, late onset
2) congenital proximal myopathy
3) cardiomyopathy

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Desminopathie; Desmin-assoziierte myofibrilläre Myopathie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 601419

Question 4

Which enzymes are involved?

Accepted Answer

Desmin

Disease	MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT
Synonym	DESMIN-RELATED MYOPATHY
OMIM	601419 OMIM = Online Mendelian Inheritance of Men
Orphanet	98909
Protein (UniProt)	Desmin
Gene locus	2q35
ICD	G71.8
Summary	rare autosomal dominant autosomal recessive mutation in the desmin gene (DES) 3 types: 1) distal myopathy, late onset 2) congenital proximal myopathy 3) cardiomyopathy
Laboratory findings	Creatine kinase inc (serum)
Symptoms	cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic constipation decreased muscle volume, atrophy or hypoplasia diarrhea early death ECG abnormalities [-] heart failure, cardiac failure muscle weakness onset, adulthood onset, infancy