Charcot-Marie-Tooth disease
00:00 / 00:00
Videos
Notes
Charcot-Marie-Tooth disease
Pathology
Central and peripheral nervous system disorders
Amyotrophic lateral sclerosis
Neurofibromatosis
Sturge-Weber syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Central nervous system disorders
Brain herniation
Broca aphasia
Kluver-Bucy syndrome
Wernicke aphasia
Wernicke-Korsakoff syndrome
Acoustic neuroma (schwannoma)
Adult brain tumors
Pediatric brain tumors
Pituitary adenoma
Ischemic stroke
Transient ischemic attack
Brain abscess
Cavernous sinus thrombosis
Creutzfeldt-Jakob disease
Encephalitis
Epidural abscess
Meningitis
Neonatal meningitis
Aqueductal stenosis
Cerebral palsy
Chiari malformation
Dandy-Walker malformation
Septo-optic dysplasia
Spina bifida
Spinocerebellar ataxia (NORD)
Syringomyelia
Tethered spinal cord syndrome
Alzheimer disease
Creutzfeldt-Jakob disease
Delirium
Frontotemporal dementia
Lewy body dementia
Normal pressure hydrocephalus
Vascular dementia
Acute disseminated encephalomyelitis
Central pontine myelinolysis
JC virus (Progressive multifocal leukoencephalopathy)
Multiple sclerosis
Transverse myelitis
Cavernous sinus thrombosis
Cluster headache
Idiopathic intracranial hypertension
Migraine
Tension headache
Trigeminal neuralgia
Arteriovenous malformation
Epidural hematoma
Intracerebral hemorrhage
Saccular aneurysm
Subarachnoid hemorrhage
Subdural hematoma
Essential tremor
Huntington disease
Opsoclonus myoclonus syndrome (NORD)
Parkinson disease
Restless legs syndrome
Torticollis
Early infantile epileptic encephalopathy (NORD)
Epilepsy
Febrile seizure
Brown-Sequard Syndrome
Cauda equina syndrome
Friedreich ataxia
Neurogenic bladder
Syringomyelia
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Concussion and traumatic brain injury
Peripheral nervous system disorders
Poliovirus
Spinal muscular atrophy
Charcot-Marie-Tooth disease
Guillain-Barre syndrome
Bell palsy
Trigeminal neuralgia
Carpal tunnel syndrome
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Thoracic outlet syndrome
Ulnar claw
Winged scapula
Lambert-Eaton myasthenic syndrome
Myasthenia gravis
Nervous system pathology review
Adult brain tumors: Pathology review
Central nervous system infections: Pathology review
Cerebral vascular disease: Pathology review
Congenital neurological disorders: Pathology review
Dementia: Pathology review
Demyelinating disorders: Pathology review
Headaches: Pathology review
Movement disorders: Pathology review
Neurocutaneous disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric brain tumors: Pathology review
Seizures: Pathology review
Spinal cord disorders: Pathology review
Traumatic brain injury: Pathology review
Assessments
Charcot-Marie-Tooth disease
Flashcards
0 / 7 complete
USMLE® Step 1 questions
0 / 1 complete
High Yield Notes
4 pages
Flashcards
Charcot-Marie-Tooth disease
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
Image reproduced from Wikimedia Commons
External References
First Aid
2022
2021
2020
2019
2018
2017
2016
Autosomal dominant disease
Charcot-Marie-Tooth disease p. 542
Charcot-Marie-Tooth disease p. 542
Transcript
Charcot-Marie-Tooth disease is named after three neurologists - Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth.
The disease is actually not a single disease, but a group of related diseases that are progressive hereditary disorders of peripheral nervous system.
Said differently, these disorders are inherited, worsen over time, and affect both sensory and motor nerve cells.
Broadly speaking, the nervous system consists of two parts, the central nervous system, and the peripheral nervous system.
The central nervous system consists of the brain and the spinal cord, and the peripheral nervous system includes the nerves that fan out from the central nervous system and connect it with the skin, muscles, organs, and exocrine glands.
Now, zooming in to a neuron, each one is made up of three main parts.
The dendrites, which are little branches that receive signals from other neurons, the soma or cell body, which has all of the neuron’s main organelles, and the axon, which transmits the signal to the next neuron in the series.
Myelin is the protective sheath that surrounds the axons of the peripheral neurons, allowing them to quickly send electrical impulses.
And this myelin is produced by Schwann cells, which are a group of cells that support neurons.
There are multiple forms of Charcot-Marie-Tooth disease and all of them are related to the defective production of proteins in either the myelin sheath or the neuron’s axon.
Regardless of the part of the neuron that’s affected, signals fail to reach their target tissues, and this can affect both sensory and motor peripheral neurons.
The most common forms of Charcot-Marie-Tooth disease are CMT1 and CMT2, both of which are autosomal dominant diseases.
CM T1 is caused by mutations in the PMP22 and MPZ genes, which encode proteins that are part of the myelin sheath made by the Schwann cells.
Loss of myelin slows down transmission of electrical impulses through the nerves.
Over time, Schwann cells try to replace the lost myelin.
As a result, under a microscope, there’s often onion bulb formation, which is when an axon is surrounded by layers of new myelin with underlying damaged layers of myelin.
Summary
Charcot-Marie-Tooth disease (CMT) is a neuromuscular disorder that progressively affects the peripheral nervous system. It can lead to progressive lower extremity weakness but can also affect the other organs. CMT symptoms vary from person to person, but can include weakness or numbness in the feet and legs, problems with balance and coordination, difficulty walking, and pain in affected areas. In some cases, CMT can also cause problems with bladder or bowel function, breathing, and heart rate.
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
- "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
- "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A" Brain (2000)
- "Neuropathic pain in Charcot-Marie-tooth disease" Archives of Physical Medicine and Rehabilitation (1998)
- "Hereditary motor and sensory neuropathies." Journal of Medical Genetics (1991)
For Institutions
Copyright © 2023 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
