Search for a rare disease
Other search option(s)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Disease definition
An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.
ORPHA:254334
Classification level: DisorderDetailed information
Article for general public
Professionals
- Anesthesia guidelines
- Deutsch (2022)
- English (2022)
- Español (2022)
- Czech (2014)
- Clinical practice guidelines
- Deutsch (2015)
- Français (2020)
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.