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Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Disease definition
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
ORPHA:90103
Classification level: Disorder- Synonym(s):
- CMT-deafness-intellectual disability syndrome
- Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
- Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
- Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: G60.0
- OMIM: 214370
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
General public
- Article for general public
- Svenska (2020) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Deutsch (2015) - AWMF
- Français (2020) - PNDS
- Anesthesia guidelines
- Czech (2014) - Orphananesthesia
- Deutsch (2022) - Orphananesthesia
- English (2022) - Orphananesthesia
- Español (2022) - Orphananesthesia
: produced/endorsed by ERN(s) : 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.