Orphanet: Charcot Marie Tooth disease type 1A

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Charcot-Marie-Tooth disease type 1A

ORPHA:101081

Classification level: Disorder

Synonym(s):
- CMT1A
- Microduplication 17p12
Prevalence: 1-5 / 10 000
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: G60.0
ICD-11: LD41.G1
OMIM: 118220
UMLS: C0270911
MeSH: -
GARD: 1245
MedDRA: -

Summary

This disease is described under Charcot-Marie-Tooth disease type 1

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

Review article
English (2014) - Orphanet J Rare Dis

Clinical genetics review
English (2015) - GeneReviews

Clinical Outcome Assessment (COA)

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Genetic Testing

Guidance for genetic testing
English (2010) - Eur J Hum Genet

produced/endorsed by ERN(s) FSMR

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

Eurordis directory

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