Causes[edit | edit source] CMT is caused by genetic mutations with approximately 1000 mutations in 80 genes that are related to the physical presentation of the disease. [physio-pedia.com]

Females that have a non-working gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the non-working gene. [rarediseases.org]

• Respiratory Insufficiency

  Insufficiency, And Dysmorphic Facies, Fetal Akinesia Deformation Sequence AR 99.97 6 of 6 MYPN Nemaline Myopathy, Childhood-Onset Nemaline Myopathy AD,AR 99.94 49 of 49 NALCN Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental [igenomix.es]

• Myopathy

  With External Ophthalmoplegia, Myopathy, Congenital, With Fiber-Type Disproportion, Centronuclear Myopathy, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital Myopathy With Myasthenic-Like Onset AD,AR 97.63 733 of 746 SCN4A Congenital [igenomix.es]

  158810 Ullrich congenital muscular dystrophy 254090 COL6A2 21q22.3 Myosclerosis, congenital 255600 Bethlem myopathy 158810 Ullrich congenital muscular dystrophy 254090 COL6A3 2q37.3 Bethlem myopathy 158810 Dystonia 27 616411 Ullrich congenital muscular [institutobernabeu.com]

• Tremor

  Later symptoms Upper limbs including both the hands and forearms may be affected as the disease progresses Loss of fine motor control Loss of dexterity & overall hand strength Pain Tremors CMT most often affects the distal limbs first, or those limbs [physio-pedia.com]

  For example, Roussy-Levy syndrome is a form of CMT11 with the additional feature of rhythmic shaking (tremors). [medlineplus.gov]

  Myopathy- Abnormal Genitalia Syndrome X,XR,G 99.98 NA of NA MUSK Fetal Akinesia Deformation Sequence, Congenital Myasthenic Syndrome AR 95.58 23 of 25 MYBPC1 Distal Arthrogryposis Type 1b, Lethal Congenital Contracture Syndrome, Congenital Myopathy With Tremor [igenomix.es]

• Ataxia

  […] synthesis defect, congenital, 4 214950 AMT 3p21.31 Glycine encephalopathy 605899 ANTXR2 4q21.21 Hyaline fibromatosis syndrome 228600 AP1S2 Xp22.2 Mental retardation, X-linked syndromic 5 304340 AP3B1 5q14.1 Hermansky-Pudlak syndrome 2 608233 APTX 9p21.1 Ataxia [institutobernabeu.com]

  AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia [igenomix.es]

  TYPE 4C CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA [medlineplus.gov]

• Cerebellar Ataxia

  ATAXIA CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 HEREDITARY MOTOR AND SENSORY NEUROPATHY V HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY [medlineplus.gov]

• Hyporeflexia

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

Surgical Treatment[edit | edit source] Surgical treatment is used for individuals with CMT with different skeletal deformities most often in their feet. [physio-pedia.com]

But treatments can help relieve symptoms, aid mobility, and increase independence and quality of life for people with the condition. [nhs.uk]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [charcot-marie-toothnews.com]

Standard Therapies Treatment Treatment of CMT disease is symptomatic and supportive. A cure is not available so it is important to minimize or stall the symptoms. [rarediseases.org]

Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med. 2004 Apr. 10(4):396-401. [Medline]. Pelayo-Negro AL, Gallardo E, García A, Sánchez-Juan P, Infante J, Berciano J. [medscape.com]

PMID: 26143528Free PMC Article Prognosis Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath [ncbi.nlm.nih.gov]

PMID: 20512157Free PMC Article Etiology Prada V, Zuccarino R, Schenone C, Mennella G, Grandis M, Shy ME, Schenone A Neurol Sci 2022 Apr;43(4):2759-2764. Epub 2021 Oct 6 doi: 10.1007/s10072-021-05646-9. [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]

Epidemiologic study of Charcot-Marie-Tooth disease: a systematic review. Neuroepidemiology 2016; 46(3):157-165. Wang Y,Yin F. A review of X-linked Charcot-Marie-Tooth disease. Journal of Child Neurology 2016; 31(6): 761-772. [rarediseases.org]

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord. 1997 Dec. 7(8):529-32. [Medline]. Kurihara S, Adachi Y, Wada K, et al. [medscape.com]

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]

The NCARDRS helps scientists look for better ways to prevent and treat CMT. You can opt out of the register at any time. Page last reviewed: 18 February 2019 Next review due: 18 February 2022 [nhs.uk]

An AFO is a plastic brace, custom made for each individual to provide the necessary support and prevent tripping as a result of foot-drop. [physio-pedia.com]