Presentation
Entire Body System
- Developmental Delay
Motor nerve c maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B SNOMEDCT-BE (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma [wordscope.com]
Delay, Digitotalar Dysmorphism, Freeman-Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome AD,AR 99.97 69 of 69 NEB Nemaline Myopathy, Childhood-Onset Nemaline Myopathy, Distal Nebulin Myopathy AR 86.77 [igenomix.es]
Motor delay MedGen UID: 381392 •Concept ID: C1854301 • Finding A type of Developmental delay characterized by a delay in acquiring motor skills. [ncbi.nlm.nih.gov]
- Soft Tissue Mass
Small thenar eminence MedGen UID: 335432 •Concept ID: C1846474 • Finding Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. [ncbi.nlm.nih.gov]
Musculoskeletal
- Lordosis
If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. [ncbi.nlm.nih.gov]
Neurologic
- Hyporeflexia
Hyporeflexia MedGen UID: 195967 •Concept ID: C0700078 • Finding Reduction of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]
- Areflexia
Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]
Treatment
Natural history and treatment of peripheral inherited neuropathies. Adv Exp Med Biol. 2009b;652:207–24. [ncbi.nlm.nih.gov]
Management: Treatment of manifestations: Often management is by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, and physical and occupational therapists. [pubmed.ncbi.nlm.nih.gov]
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: 19332693 Prognosis Argente-Escrig H, Sánchez-Monteagudo A, Frasquet M, Millet-Sancho E, Martínez-Rubio MD, Pitarch I, Tomás M, Espinós C, Lupo V, Sevilla T J Neurol Sci 2019 Jul 15;402:156-161. Epub 2019 May 15 doi: 10.1016/j.jns.2019.05.015. [ncbi.nlm.nih.gov]
Etiology
Etiology Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V Ann Hum Genet 2013 Jul;77(4):336-43. [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). doi:10.1159/000443706 Reilly, M. M. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting! [mda.org]
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]
Prevention
Treatment is symptomatic and may include: ankle/foot orthoses (AFOs); physiotherapy (daily heel cord stretching exercises and physical activity to prevent contractures and help preserve flexibility); surgery to correct severe pes cavus deformity and/or [pubmed.ncbi.nlm.nih.gov]