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Mitochondrial DNA depletion syndrome, myopathic form

Disease definition

A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

ORPHA:254875

Classification level: Disorder
  • Synonym(s):
    • mtDNA depletion syndrome, myopathic form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.3
  • ICD-11: 5C53.20
  • OMIM: 609560  618972
  • UMLS: C3501891
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015)

Detailed information

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

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.