Orphanet: Autosomal dominant Charcot Marie Tooth disease type 2Z

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Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Disease definition

A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties.

ORPHA:466768

Classification level: Disorder

Synonym(s):
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
- CMT2Z
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
ICD-10: G60.0
OMIM: 616688
UMLS: C5569025
MeSH: -
GARD: -
MedDRA: -

Detailed information

General public

Article for general public
Svenska (2020) - Socialstyrelsen

Guidelines

Clinical practice guidelines
Deutsch (2015) - AWMF
Français (2020) - PNDS

Anesthesia guidelines
Czech (2022) - Orphananesthesia
Deutsch (2022) - Orphananesthesia
English (2022) - Orphananesthesia
Español (2022) - Orphananesthesia

Clinical Outcome Assessment (COA)

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

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Autosomal dominant Charcot-Marie-Tooth disease type 2Z

ORPHA:466768

A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

General public

Guidelines

Clinical Outcome Assessment (COA)

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