Orphanet: Myopathic Ehlers Danlos syndrome

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

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).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Myopathic Ehlers-Danlos syndrome

Disease definition

A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis.

ORPHA:536516

Classification level: Disorder

Synonym(s):
- EDS/myopathy overlap syndrome
- Myopathic EDS
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive or Autosomal dominant
Age of onset: Adult
ICD-10: Q79.6
ICD-11: LD28.1Y
OMIM: 616471
UMLS: C5680153
MeSH: -
GARD: -
MedDRA: -

Detailed information

Guidelines

Clinical practice guidelines
English (2014) - Orphanet J Rare Dis
English (2015) - Neurology
English (2018) - RMD Open
Français (2020) - PNDS
English (2020) - Nat Rev Dis Primers

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Myopathic Ehlers-Danlos syndrome

ORPHA:536516

A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Guidelines

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services