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X-linked Charcot-Marie-Tooth disease type 3
Disease definition
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
ORPHA:101077
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
: 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.