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X-linked Charcot-Marie-Tooth disease type 2
Disease definition
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
ORPHA:101076
Classification level: DisorderA 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
- English (2014) - Orphananesthesia
- Deutsch (2022) - Orphananesthesia
- Español (2022) - Orphananesthesia
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.