U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2(CMT2A2; HMSN2A2)

MedGen UID:
373098
•Concept ID:
C1836485
•
Disease or Syndrome
Synonyms: Charcot-Marie-Tooth Disease, Axonal, Type 2A2; Charcot-Marie-Tooth Disease, Neuronal, Type 2A2; Charcot-Marie-Tooth Neuropathy, Type 2A2; CMT2A2; Hereditary Motor And Sensory Neuropathy IIA2; HMSN2A2; HMSNIIA2
 
OMIM®: 609260

Recent clinical studies

Etiology

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.
Xu X, Lu F, Du S, Zhang L
BMC Pediatr 2024 Jan 5;24(1):21. doi: 10.1186/s12887-023-04441-z. PMID: 38183043Free PMC Article
Ethambutol toxicity exacerbating the phenotype of CMT2A2.
Fonkem E, Skordilis MA, Binkley EM, Raymer DS, Epstein A, Arnold WD, Kissel JT, Lawson VH
Muscle Nerve 2013 Jul;48(1):140-4. Epub 2013 Jun 4 doi: 10.1002/mus.23766. PMID: 23733358

Diagnosis

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.
Xu X, Lu F, Du S, Zhang L
BMC Pediatr 2024 Jan 5;24(1):21. doi: 10.1186/s12887-023-04441-z. PMID: 38183043Free PMC Article
Early-onset cerebellar ataxia in a patient with CMT2A2.
Madrid R, Guariglia SR, Haworth A, Korosh W, Gavin M, Lyon GJ
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005108. PMID: 32532879Free PMC Article
Ethambutol toxicity exacerbating the phenotype of CMT2A2.
Fonkem E, Skordilis MA, Binkley EM, Raymer DS, Epstein A, Arnold WD, Kissel JT, Lawson VH
Muscle Nerve 2013 Jul;48(1):140-4. Epub 2013 Jun 4 doi: 10.1002/mus.23766. PMID: 23733358

Therapy

Ethambutol toxicity exacerbating the phenotype of CMT2A2.
Fonkem E, Skordilis MA, Binkley EM, Raymer DS, Epstein A, Arnold WD, Kissel JT, Lawson VH
Muscle Nerve 2013 Jul;48(1):140-4. Epub 2013 Jun 4 doi: 10.1002/mus.23766. PMID: 23733358

Prognosis

Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses.
Lv H, Wang L, Li W, Qiao X, Li Y, Wang Z, Yuan Y
Clin Neuropathol 2013 Jan-Feb;32(1):16-23. doi: 10.5414/NP300464. PMID: 22762946

Supplemental Content

Table of contents

    Related information

    • MeSH
      Related Medical Subject Headings
    • NCBI Bookshelf
      Related information in NCBI Bookshelf
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...