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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: DisorderA summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)
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
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM


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.