The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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

• Areflexia

  [from OMIM] From HPO Areflexia MedGen UID: 115943 •Concept ID: C0234146 • Finding Absence of neurologic reflexes such as the knee-jerk reaction. [ncbi.nlm.nih.gov]

• Peripheral Neuropathy

  Charcot-Marie-Tooth disease type 2B2 (CMT2B2) is an autosomal recessive sensorineural axonal peripheral neuropathy manifest as distal muscle weakness and atrophy and distal sensory impairment. [ncbi.nlm.nih.gov]

  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]

• Hyporeflexia

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Etiology CMT2B2 is transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25). The documents contained in this web site are presented for information purposes only. [orpha.net]

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]

^ "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]

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]