Central Pontine Myelinolysis

External Ids:

Disease Ontology 12 DOID:636 MeSH 45 D017590 NCIt 51 C84623 SNOMED-CT 69 6807001

ICD10 34 G37.2 EFO 17 EFO_1000857 UMLS 74 C0206083

NINDS : ⁵⁵ Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells (neurons) can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brain stem called the pons.  Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis (EPM). Experts estimate that 10 percent of those with CPM will also have areas of EPM. The initial symptoms of myelinolysis, which begin to appear 2 to 3 days after hyponatremia is corrected, include a depressed level of awareness, difficulty speaking (dysarthria or mutism), and difficulty swallowing (dysphagia).  Additional symptoms often arise over the next 1-2 weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination.  At its most severe, myelinolysis can lead to coma, “locked-in” syndrome (which is the complete paralysis of all of the voluntary muscles in the body except for those that control the eyes), and death.  Although many affected people improve over weeks to months, some have permanent disability. Some also develop new symptoms later, including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor. Anyone, including adults and children, who undergoes a rapid rise in serum sodium is at risk for myelinolysis. Some individuals who are particularly vulnerable are those with chronic alcoholism and those who have had a liver transplant. Myelinolysis has occurred in individuals undergoing renal dialysis, burn victims, people with HIV-AIDS, people over-using water loss pills (diuretics), and women with eating disorders such as anorexia or bulimia.  The risk for CPM is greater if the serum (blood) sodium was low for at least 2 days before correction. 

MalaCards based summary : Central Pontine Myelinolysis, also known as myelinolysis, central pontine, is related to neuromyelitis optica and optic nerve disease, and has symptoms including dysarthria, dysphagia and acute paralysis. An important gene associated with Central Pontine Myelinolysis is MBP (Myelin Basic Protein), and among its related pathways/superpathways are Neuroscience and Aquaporin-mediated transport. The drugs Tacrolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include pons, brain and liver, and related phenotypes are behavior/neurological and hematopoietic system

Disease Ontology : ¹² A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has symptom acute paralysis, has symptom dysphagia, and has symptom dysarthria.

NIH Rare Diseases : ⁵⁴ Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs when sodium deficiency is treated too rapidly.  The part of the brain called the pons is especially sensitive and too much sodium can damage nerve fibers.  Initial signs and symptoms appear within two to three days and include a depressed level of awareness, difficulty speaking, and difficulty swallowing.  Additional symptoms often occur in the next one to two weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination.  Severe CPM can lead to coma, �??locked-in�?� syndrome, and death. Treatment is focused on safely restoring sodium levels and relieving symptoms. Many affected people improve over weeks to months; however, some have permanent disability or develop new symptoms later on including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor.

Wikipedia : ⁷⁷ Central pontine myelinolysis (CPM) is a neurological condition involving severe damage to the myelin... more...

Search NIH Clinical Center for Central Pontine Myelinolysis

Search GEO for disease gene expression data for Central Pontine Myelinolysis.