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Charcot-Marie-Tooth Disease Type 2B1
Axonal Charcot-Marie-Tooth Disease Type 2B1

Presentation

Neurologic

  • Areflexia

    Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

  • Hyporeflexia

    Hyporeflexia MedGen UID: 195967 •Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

Treatment

Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]

Prognosis

PMID: 27405450 Prognosis Liang JJ, Grogan M, Ackerman MJ, Goodsell K J Cardiovasc Electrophysiol 2016 Jul;27(7):868-71. Epub 2016 May 31 doi: 10.1111/jce.12984. [ncbi.nlm.nih.gov]

Etiology

[…] nervous system Areflexia Axonal degeneration/regeneration Decreased motor nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Distal sensory impairment Hyporeflexia Onion bulb formation Peripheral axonal atrophy Steppage gait Etiology [ncbi.nlm.nih.gov]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Epidemiology

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [medlineplus.gov]

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