Demyelinating diseases consists of a group of disorders characterized by the loss of myelin with relative axonal sparing. Primary demyelinating disorders may be attributed to autoimmune mechanisms. Demyelination is often secondary to infectious, metabolic, ischemic, or hereditary disorders or exposure to a toxin.
Symptoms of demyelinating disorders are variable and depend on the neurologic deficits in the affected portion of the nervous system. Primary demyelinating disorders should be considered in patients presenting with diffuse or multifocal neurologic deficits of acute onset that wax and wane; in particular those that onset shortly after a vaccination or infection. The most common presenting symptom of demyelinating diseases are sensory disturbances of the limbs, vision loss, and subacute motor symptoms (e.g, weakness, spasticity, hyperreflexia, gait and balance disturbance) .
Common demyelinating disorders and presenting symptoms include:
- Multiple sclerosis - Common presenting features of multiple sclerosis include weakness, paraesthesia or focal sensory loss, diplopia, optic neuritis, ataxia, dizziness, muscle spasms, trigeminal neuralgia, depression, weakness, fatigue, seizures, and/or mild cognitive impairment. Bladder, bowel, and sexual dysfunction often occur as well .
- Acute disseminated encephalomyelitis - Patients with acute disseminated encephalomyelitis commonly have ataxia, headache, weakness, slurring of words, speech impairment, cranial nerve palsies, seizures, lethargy, delirium, stupor, and/or vomiting  .
- Progressive multifocal leukoencephalopathy - Common symptoms of progressive multifocal leukoencephalopathy include insidious onset of neurological deficits related to speech, vision, motor function, personality, and cognition  .
- Central pontine and extrapontine myelinolysis is characterized by acute onset of confusion, weakness of the extremities, and/or mutism. Other symptoms may include ataxia, difficulty swallowing, and low blood pressure. Some patients may also complain of movement disorders (e.g., dystonia, choreoathetosis, shuffling).
- Spastic Gait
We describe herein the case of a 57 year old man who, over the last five years, has presented ataxic and spastic gait on the right side, a reduction in fine motor movement of the fingers mainly on the right side, superficial right side brachiocrural hypoesthesia [ncbi.nlm.nih.gov]
On first evaluation she had an atrophic optic disc on the left side, mild spastic gait and increased muscle stretch reflexes. [scielo.br]
The diagnosis of demyelinating disease consists of a history of present illness, physical exam, laboratory, neuromuscular and imaging tests. A history of any recent infections and/or vaccinations should be noted.
Laboratory tests that should be done include complete blood count, syphilis test (e.g., RPR), antinuclear antibodies, fluorescent treponemal antibody test, lyme titer, sedimentation rate, and angiotensin converting enzyme level .
A cerebrospinal fluid (CSF) exam may demonstrate pleocytosis (slight elevation of mononuclear white blood cells), oligoclonal immunoglobulin G (IgG) bands, and an elevated globulin to albumin ratio . Patients with myelin damage will have elevated CSF myelin protein levels, which is indicative of myelin damage.
A magnetic resonance imaging (MRI) scan may show subclinical demyelinated lesions and/or enhancement of nerve roots with the use of gadolinium .
The "hot bath test" works by elevating the body's temperature, which leads to exacerbation of symptoms and worsened deficits in persons with demyelinating disease.
Neuromuscular testing including an electromyography (EMG) can be used to help determine presence of peripheral neuropathy and demyelination .
A sural nerve biopsy can be performed to add to the evidence for the diagnosis of a demyelinating disease.
- Brain MRI Abnormal
On brain MRI, the MOG group had fewer brain abnormalities, fewer periventricular lesions, and fewer ovoid lesions perpendicular to the ventricle than the MS group. [nn.neurology.org]
Radiologically isolated syndrome (RIS) affects patients who have incidental brain MRI abnormalities suggestive of MS, but without any sign or symptom attributable to the disease. [jcsm.aasm.org]
Other Test Results
- Slow Nerve Conduction Velocity
Tests that can be of diagnostic help include nerve conduction testing and electromyography looking for very slow nerve conduction velocities, lumbar puncture looking for elevated spinal fluid protein without many inflammatory cells and MRI imaging of [rarediseases.org]
Carroll WM 1, Saida T, Kim HJ, Kira J, Kermode AG, Tsai CP, Fujihara K, Kusunoki S, Tanaka M, Kim KK, Bates D ; Pam-Asian Committee on Treatment and Research of Multiple Sclerosis. [ncbi.nlm.nih.gov]
Prognosis of Demyelinating Diseases Prognosis of Demyelinating Diseases depends on the condition. [epainassist.com]
Prognosis The prognosis is excellent for low grade lesions but a poorer prognosis is associated with the FS variant due to a higher risk of recurrence and metastases. Overall, the rate of mortality is low (< 3% at 10 years). [orpha.net]
Demyelinating Disease Prognosis The outcome of treatment depends on what type of demyelinating disorder is present in the patient. [hxbenefit.com]
SNP Genetics, Inc., Seoul, Republic of Korea. 5 Department of Life Science, Sogang University, Seoul, Republic of Korea; Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul, Republic of Korea. [ncbi.nlm.nih.gov]
Benign course 5.Epidemiology: a. In general, the frequency increases at higher latitudes (toward both poles). Individuals take on the relative risk of the environment in which they spent their first 15 years. b. [kobiljak.msu.edu]
This review discusses clinical, pathophysiological, radiological and therapeutic concepts of demyelinating disease of the CNS in SLE, focussing on its differentiation from MS and its relation with other CNS demyelinating processes, such as transverse [ncbi.nlm.nih.gov]
Cause & pathophysiology Cause- exactly not known Genetic propensity- HLA-DR15 & DQ6 increase risk Infection- possible trigger of inflammatory response- HHV, MMR Other- decreased sunlight exposure, smoking, stress, vaccinations, toxins Pathophysiology [slideshare.net]
A randomized, controlled, clinical trial Krøll et al. 2018 Migraine and its psychiatric comorbidities Minen et al. 2016 Pathophysiology of Migraine Pietrobon and Moskowitz 2013 The effects of aerobic exercise for persons with migraine and co-existing [herlevhospital.dk]
Treatment Aims- returning function after an acute attack, preventing new attacks, preventing disability Acute attack- IV methylprednisolone ± plasmapheresis Disease modifiers- Interferon β-1a/1b Glatiramer Mitoxantrone Natalizumab Supportive [slideshare.net]
However, it cannot be prevented in individuals with genetic factors causing nerve demyelination. Researches are being carried out to find out whether it is possible to prevent nerve demyelination in such people. [hxbenefit.com]
However, very often the oligodendrocytes are also destroyed which delays or prevents remyelination from happening. Additionally, another kind of glial cell, called astrocytes, cause scar tissue to form in place of the myelin. [web.archive.org]
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