LAFORA DISEASE Meaning and
Definition
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Lafora disease is a rare inherited neurodegenerative disorder that affects the central nervous system. It is characterized by the formation of abnormal aggregates of a starch-like substance called polyglucosan within the cells of various organs, particularly the brain, muscles, liver, and skin.
The disease is caused by mutations in the genes EPM2A or EPM2B, which are responsible for encoding proteins involved in glycogen metabolism. These mutations lead to the accumulation of polyglucosan in the affected cells. Due to the accumulation of polyglucosan, the affected individuals experience progressive neurological symptoms.
The symptoms of Lafora disease usually appear during late childhood or adolescence. Initial signs may include myoclonus (sudden, involuntary muscle jerks), seizures, and progressive decline in cognitive function. As the disease progresses, individuals may develop difficulties with coordination, visual disturbances, and muscle rigidity. In some cases, behavioral and psychiatric disturbances may also occur.
Lafora disease is a debilitating condition with no known cure. Treatment primarily focuses on managing the symptoms and providing supportive care. Anticonvulsant medications may be prescribed to control seizures, and physical therapy can help maintain mobility and reduce muscle stiffness. Genetic counseling is often recommended for affected individuals and their families to understand the inheritance pattern and discuss the options for family planning.
Overall, Lafora disease is a rare and devastating disorder characterized by the accumulation of polyglucosan in cells, resulting in progressive neurological symptoms.
Common Misspellings for LAFORA DISEASE
- kafora disease
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- lafira disease
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- lafoea disease
Etymology of LAFORA DISEASE
The term "Lafora Disease" is named after the Spanish neurologist, Gonzalo Rodriguez Lafora. He first described the disease in the early 20th century, specifically in 1911 along with another colleague, Dr. Samuel Ortega. The disease was named in honor of Lafora to acknowledge his significant contribution to its discovery and understanding.
