Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


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.

Captcha image

Leber plus disease

Disease definition

Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


Classification level: Disorder
  • Synonym(s):
    • LHON plus disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Mitochondrial inheritance 
  • Age of onset: Adolescent, Infancy, Childhood, Adult
  • ICD-10: H47.2
  • OMIM: 165200  500001
  • UMLS: -
  • MeSH: -
  • GARD: 8476
  • MedDRA: -

Detailed information


Additional information

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.