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Tethered spinal cord syndrome
Spinocerebellar ataxia (NORD)
Transient ischemic attack
Concussion and traumatic brain injury
Shaken baby syndrome
Early infantile epileptic encephalopathy (NORD)
Idiopathic intracranial hypertension
Cavernous sinus thrombosis
Lewy body dementia
Normal pressure hydrocephalus
Restless legs syndrome
Opsoclonus myoclonus syndrome (NORD)
Central pontine myelinolysis
Acute disseminated encephalomyelitis
JC virus (Progressive multifocal leukoencephalopathy)
Adult brain tumors
Acoustic neuroma (schwannoma)
Pediatric brain tumors
Cauda equina syndrome
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Cavernous sinus thrombosis
von Hippel-Lindau disease
Amyotrophic lateral sclerosis
Spinal muscular atrophy
Thoracic outlet syndrome
Carpal tunnel syndrome
Lambert-Eaton myasthenic syndrome
Congenital neurological disorders: Pathology review
Headaches: Pathology review
Seizures: Pathology review
Cerebral vascular disease: Pathology review
Traumatic brain injury: Pathology review
Spinal cord disorders: Pathology review
Dementia: Pathology review
Central nervous system infections: Pathology review
Movement disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Demyelinating disorders: Pathology review
Adult brain tumors: Pathology review
Pediatric brain tumors: Pathology review
Neurocutaneous disorders: Pathology review
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Charcot-Marie-Tooth disease p. 542
Filip Vasiljević, MD
Brittany Norton, MFA
Tanner Marshall, MS
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.
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.
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