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]

• 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]

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]

"[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]

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]