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SURF1-related Charcot-Marie-Tooth disease type 4
Disease definition
A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
ORPHA:391351
Classification level: Disorder- Synonym(s):
- CMT4K
- Charcot-Marie-Tooth disease type 4K
- SURF1-related CMT4
- SURF1-related severe demyelinating Charcot-Marie-Tooth disease
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: G60.0
- OMIM: 616684
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Detailed information
Professionals
- Anesthesia guidelines
- Español (2014, pdf)
- English (2014, pdf)
- Deutsch (2014, pdf)
- Clinical practice guidelines
- Deutsch (2015)
- Français (2020, pdf)
- Clinical genetics review
- English (2016)
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.