x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Bethlem myopathy

Disease definition

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

ORPHA:610

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G71.0
  • ICD-11: 8C70.6
  • OMIM: 158810  616471
  • UMLS: C1834674
  • MeSH: C535436
  • GARD: 873
  • MedDRA: -

Summary

Epidemiology

To date, fewer than 100 cases have been reported in the literature, thus illustrating its rarity.

Clinical description

The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures which are sometimes suggestive of the diagnosis.

Etiology

Mutations in one of the three subunits of collagen VI are responsible for the disease. Molecular studies are however hampered by the size and expression pattern of the genes.

Diagnostic methods

Creatine kinase (CK) levels and histological findings are not conclusive.

Management and treatment

Treatment remains purely supportive.

Expert reviewer(s):  Dr J. Andoni URTIZBEREA - Last update: February 2005

  A summary on this disease is available in Português (2003) Deutsch (2005) Español (2005) Français (2005) Italiano (2005) Nederlands (2005)

Detailed information

General public

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.