Charcot-Marie-Tooth disease-nephropathy syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant or Not applicable Age of onset: No data available ICD-10: G60.0 OMIM: 614455 UMLS: - MeSH: - GARD: 12011 MedDRA: - The documents contained in this web site are presented [orpha.net]

Orpha Number: 401964 Definition A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present [rarediseases.info.nih.gov]

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

• Hyporeflexia

  0001638 Decreased motor nerve conduction velocity 0003431 Distal amyotrophy Distal muscle wasting 0003693 Distal muscle weakness Weakness of outermost muscles 0002460 EMG: chronic denervation signs 0003444 Hammertoe Hammer toe Hammertoes [ more ] 0001765 Hyporeflexia [rarediseases.info.nih.gov]

• Areflexia

  Showing of 15 | Medical Terms Other Names Learn More: HPO ID Percent of people who have these symptoms is not available through HPO Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Cardiomyopathy Disease of the heart muscle [rarediseases.info.nih.gov]

• Absent Deep Tendon Reflexes

  deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). [orpha.net]

• Responsiveness Decreasing

  […] reflex response Decreased reflexes [ more ] 0001265 Impaired distal tactile sensation Decreased touch sensation in extremities 0006937 Impaired distal vibration sensation 0006886 Onion bulb formation 0003383 Peripheral axonal neuropathy 0003477 Pes cavus [rarediseases.info.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.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]

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

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]

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]

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]