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]

• Swelling

  […] 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 since infancy or childhood, and axonal swelling [rarediseases.info.nih.gov]

• 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]

• 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]

• 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]

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]

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]

^ "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]