Bethlem Myopathy

Genes: 

Sinonimo: 

Myopathy, benign congenital, with contractures;;Muscular dystrophy, benign congenital; Type VI collagen deficiency

Tipo de test: 

Tiempo de espera: 

0 dias

Más información

Bethlem myopathy is a neuromuscular disease type, which is a benign form of muscular dystrophy progressive. It has an autosomal dominant mode of inheritance in most cases.

Individuals affected by Bethlem myopathy are characterized by contractures variables (mainly affecting the long finger flexors, elbows and ankles), and proximal muscle weakness.

The disease may appear in the prenatal stage (can be seen a decrease in fetal movement), neonatal (baby has hypotonia or torticollis), early childhood (mild motor delay, contractures and muscle weakness) or in adulthood (weakness proximal and contractures in long fingers flexors and Achilles tendon).

Bethlem myopathy has a low prevalence of about 7.7 per one million individuals, and it is associated with mutations in any of the three genes encoding for collagen type VI: COL6A1 (21q22.3), COL6A2 (21q22. 3), and COL6A3 (2q37.3). In most patients found a pattern of autosomal dominant inheritance. However, some cases have been reported under autosomal recessive inheritance.

Bioarray has a NGS panel for the sequencing of the three genes involved in pathologies due to deficiency of collagen type VI.

Fuente: 

Tomado de GeneReviews

Prevalencia: 

7.7/1.000.000

Herencia: 

Autosomal recessive; autosomal dominant