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Charcot-Marie-Tooth disease type 2B1
Disease definition
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
ORPHA:98856
Classification level: DisorderSummary
Epidemiology
It has been described exclusively in families originating from North-Western Africa (northwest Algeria and the east of Morocco).
Clinical description
Onset occurs in the second decade of life. The disease course and severity are variable, even between affected members of the same family. In general, the disease manifests as distal muscle weakness and atrophy that progress gradually to the proximal muscles. Involvement of the upper and lower limbs has been reported. Sensory impairment may also be present but foot deformities are either moderate or absent. Proximal muscle atrophy of the pelvic and scapular girdle may occur later in the disease course.
Etiology
CMT2B1 is caused by a p.R644C missense mutation in the lamin A/C protein (encoded by the LMNA gene, 1q22).
Genetic counseling
CMT2B1 is transmitted in an autosomal recessive manner.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
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
Disease review articles
- Clinical genetics review
- English (2016) - GeneReviews
Clinical Outcome Assessment (COA)
- Patient-Centered Outcome Measures (PCOMs)
- English (2023) - PROQOLIDTM
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information