Power, bulk, gait, and coordination were intact, but distal hyporeflexia was present. Tinel signs were present at the wrists and elbows. No nerves could be palpated. Hammertoes and high arches were present. [emedicine.medscape.com]

The offspring who inherited two mutant genes presented fully with the disease. [en.wikipedia.org]

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle and Nerve (2018). doi:10.1002/mus.25981 Kalaydjieva, L. et al. [mda.org]

• Weakness

  They may have greater atrophy and distal leg weakness with relatively less hand weakness. Nerve hypertrophy is absent but is variable in CMT1 as well. [emedicine.medscape.com]

  To see signs of muscle weakness, the neurologist may ask patients to walk on their heels or to move part of their leg against an opposing force. [en.wikipedia.org]

  Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. [medlineplus.gov]

  CMTX has many of the same symptoms of CMT1 and CMT2, including muscle weakness and atrophy, and changes in sensation, mostly in the feet, lower part of the legs, hands and forearms. [mda.org]

• Fatigue

  […] with CMT must avoid periods of prolonged immobility such as when recovering from a secondary injury, as prolonged periods of limited mobility can drastically accelerate symptoms of CMT.[7] Pain due to postural changes, skeletal deformations, muscle fatigue [en.wikipedia.org]

  Patients experience leg and hand cramps that are often worse with fatigue and relieved by wearing ankle-foot orthoses. [14] The following paragraphs focus on distinguishing features of CMT subtypes. [emedicine.medscape.com]

• Asymptomatic

  Two younger children were asymptomatic but had distal pinprick and vibratory sense loss with normal proprioception, strength, and reflexes. [emedicine.medscape.com]

  Some patients are able to live a normal life and are almost or entirely asymptomatic.[25] A 2007 review stated that, "life expectancy is not known to be altered in the majority of cases. [en.wikipedia.org]

• Muscle Weakness

  CMTX has many of the same symptoms of CMT1 and CMT2, including muscle weakness and atrophy, and changes in sensation, mostly in the feet, lower part of the legs, hands and forearms. [mda.org]

  To see signs of muscle weakness, the neurologist may ask patients to walk on their heels or to move part of their leg against an opposing force. [en.wikipedia.org]

• Peripheral Neuropathy

  Review. tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase. [pubmed.ncbi.nlm.nih.gov]

  Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5). Am. J. Hum. [mda.org]

  Pronunciation [ʃaʁko maʁi tuːθ] Specialty Neurology Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathies of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various [en.wikipedia.org]

  Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy McLaughlin HM ; Sakaguchi R ; Liu C ; Igarashi T ; Pehlivan D ; Chu K ; Iyer R ; Cruz P ; Cherukuri PF ; Hansen NF ; Mullikin JC ; NISC [myobase.org]

  Brain 122:281–29010.1093/brain/122.2.281 [PubMed] [CrossRef] [Google Scholar] Dyck PJ, Thomas PK, Lambert EH, Bunge R (1993) Peripheral neuropathy, 3rd ed. W. B. [ncbi.nlm.nih.gov]

• Paresis

  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]

  CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology (2010). doi:10.1212/WNL.0b013e3181ffe4bb Ionasescu, V. et al. [mda.org]

• Hyporeflexia

  On examination, most patients with CMT exhibit distally dominant weakness, hyporeflexia, and muscle atrophy affecting the legs earlier and more significantly than the arms. [emedicine.medscape.com]

• Areflexia

  In one study, ankle jerks were absent in 37.5%, and areflexia occurred in 12.5%. [emedicine.medscape.com]

Undiagnosed PMP22 deletions in an oligosymptomatic patient may complicate the treatment and diagnosis of an acquired neuromuscular disease. [emedicine.medscape.com]

This disease is the most commonly inherited neurological disorder affecting about one in 2,500 people.[1][2] There are not currently curative treatments for this disorder, with care focused on maintaining function. [en.wikipedia.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]

"[23] Several corrective surgical procedures can be done to improve the physical condition of the affected individuals.[24] Prognosis[edit] The severity of symptoms varies widely even for the same type of CMT. [en.wikipedia.org]

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):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [medlineplus.gov]

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]

^ "Physical Medicine and Rehabilitation for Charcot–Marie–Tooth Disease: Background, Pathophysiology, Epidemiology". Emedicine.medscape.com. Retrieved 2016-11-13. ^ Le, Tao; Bhushan, Vikas (6 January 2014). First Aid for the USMLE Step 1 2014. [en.wikipedia.org]

^ "Physical Medicine and Rehabilitation for Charcot–Marie–Tooth Disease: Background, Pathophysiology, Epidemiology". Emedicine.medscape.com. Retrieved 2016-11-13. ^ Le, Tao; Bhushan, Vikas (6 January 2014). First Aid for the USMLE Step 1 2014. [en.wikipedia.org]

Importantly, CMT1A has one of the highest de novo mutation rates, similar to neurofibromatosis type 1, as discussed in Pathophysiology. Consequently, cases occur in which a family history is truly absent. [emedicine.medscape.com]

This prevents the synapses from functioning.[12] X linked CMT and Schwann cells[edit] CMT can also be produced by X-linked mutations, and is named X-linked CMT (CMTX). [en.wikipedia.org]