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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Disease definition
A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
ORPHA:217055
Classification level: DisorderDetailed information
Article for general public
Professionals
- Anesthesia guidelines
- Español (2014, pdf)
- English (2014, pdf)
- Deutsch (2014, pdf)
- Clinical practice guidelines
- Deutsch (2015)
- Français (2020, pdf)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
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Specialised Social Services
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