CMT1A usually presents with a typical CMT phenotype (clinical presentation). Patients are slow runners in childhood, develop high arches, hammertoes and often require orthotics (braces) for ankle support. [cmt.org.uk]

A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. [ncbi.nlm.nih.gov]

Atypical clinical presentation and rapid progression characteristic of CMT2CC Available clinical information for 33 patients (28 seen in our centres and 5 by history), of which 30 were symptomatic, indicated that the majority first presented with neuropathy [jnnp.bmj.com]

Mendelian Rare Diseases CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F; CMT1F Description Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood [mendelian.co]

They have various presentations, with some being mild and some severe. These disorders may also have symptoms in other areas of the body, such as cataracts and deafness. [cmtausa.org]

• Anemia

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Amyloidosis

  […] ataxia, autosomal recessive with axonal neuropathy AR TFG 602498 Hereditary motor and sensory neuropathy, Okinawa type AD TRIM2 614141 CMT disease, type 2R (CMT 2R) AR TRPV4 605427 Hereditary motor and sensory neuropathy, type IIC (HMSN 2C) AD TTR 176300 Amyloidosis [arupconsult.com]

• Muscle Weakness

  Without protection, the axons become damaged, which affects the transmission of messages between the brain and the muscles and senses. This leads to muscle weakness and numbness. [nhs.uk]

  [from SNOMEDCT_US] Show allHide all Abnormality of limbs Pes cavus Abnormality of the digestive system Dysphagia Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Areflexia Clusters of [ncbi.nlm.nih.gov]

  weakness and atrophy (in particular of the peroneal group) SNOMEDCT-BE (disorder) / 763400005 SNOMEDCT-BE (in particular of the peroneal group) / 763400005 maladie de Charcot-Marie-Tooth autosomique dominante type 2N Autosomal dominant Charcot-Marie-Tooth [wordscope.com]

  Common early signs and symptoms can include decreased sensitivity to heat, touch or pain, muscle weakness in the hand, foot or lower leg, trouble with fine motor skills, high-stepped gait (foot drop), loss of muscle mass in the lower leg, frequent tripping [rarediseases.org]

  Disease Overview Prevalence of CMT hereditary neuropathy: 1/3,300 Age of onset: First through third decade Symptoms Disorder Common Symptom(s) CMT Progressive distal motor and sensory neuropathy Muscle weakness/atrophy Pes cavus foot deformity, foot drop [arupconsult.com]

• Paresis

  The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction [ncbi.nlm.nih.gov]

  CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction [mendelian.co]

  Type 2C This type is a very rare form in which patients may have diaphragm or vocal cord paresis in addition to the other problems of CMT. Linkage to chromosome 12 has been found. [cmt.org.uk]

  Amyotrophic lateral sclerosis 11 AD GAN 605379 Giant axonal neuropathy-1 AR GARS 600287 CMT disease, type 2D (CMT 2D) Neuropathy, distal hereditary motor, type VA (dHMN 5A) AD GDAP1 606598 CMT disease, type 4A (CMT 4A) CMT disease, axonal, with vocal cord paresis [arupconsult.com]

  AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS [medlineplus.gov]

• Polyneuropathy

  Diseases Charcot-Marie-Tooth Disease Nerve Compression Syndromes Hereditary Sensory and Motor Neuropathy Stomatognathic Diseases Nervous System Malformations Nervous System Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Polyneuropathies [clinicaltrials.gov]

  Charcot-Marie-Tooth (CMT) hereditary neuropathy is a group of disorders that involve chronic motor and sensory polyneuropathy, also referred to has hereditary motor and sensory neuropathy (HMSN). [arupconsult.com]

• Hyporeflexia

  Distal muscle weakness Abnormality of the nervous system Areflexia Clusters of axonal regeneration Decreased motor nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Distal sensory impairment Global developmental delay Hyporeflexia [ncbi.nlm.nih.gov]

• Areflexia

  [from SNOMEDCT_US] Show allHide all Abnormality of limbs Pes cavus Abnormality of the digestive system Dysphagia Abnormality of the musculoskeletal system Distal amyotrophy Distal muscle weakness Abnormality of the nervous system Areflexia Clusters of [ncbi.nlm.nih.gov]

The disease Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, for which no treatment has proved its effectiveness. [clinicaltrials.gov]

Charcot-Marie-Tooth can't be cured at this time, but treatments such as physical and occupational therapy can often be very helpful. Most people with this condition live to a normal age and remain active. [hopkinsmedicine.org]

Natural history and treatment of peripheral inherited neuropathies. Adv Exp Med Biol. 2009b;652:207–24. [ncbi.nlm.nih.gov]

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]

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]

In animals and humans, PMP22 mRNA level of glutathione S-transferase theta 2 and Cathepsin A (markers of oxidative stress), detected in a skin biopsy are markers that may play a role in the prognosis evolution of the disease. [clinicaltrials.gov]

This will enable more informed discussions between clinicians and patients on the natural history and prognosis of the disease, and aid the interpretation of NGS-derived novel variants in NEFH in the context of the observed specific phenotype. [jnnp.bmj.com]

Additionally, nongenetic or acquired etiologies should be excluded. [arupconsult.com]

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]

[…] current grant cycle, that repository has been dbGaP Supporting Materials: Study Protocol Statistical Analysis Plan (SAP) Informed Consent Form (ICF) Clinical Study Report (CSR) Analytic Code Time Frame: (For Observational/Longitudinal/Natural History/Epidemiology [clinicaltrials.gov]

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]

All variants were absent from the gnomAD population database,22 which makes plausible the attribution of pathogenicity from an epidemiological perspective. [jnnp.bmj.com]

This may help prevent or delay disability caused by weakness and deformity. Occupational therapy to help with your daily activities. This includes using special devices like rubber grips, or changing from buttons and zippers to Velcro. [hopkinsmedicine.org]