Type II Ataxia with Lactic Acidosis is a rare genetic disorder characterized by a combination of symptoms related to both ataxia and lactic acidosis. Ataxia refers to the loss of voluntary coordination of muscle movements, which leads to unsteady gait, clumsiness, and difficulty with tasks requiring fine motor skills. Lactic acidosis, on the other hand, is a condition where there is an abnormal buildup of lactic acid in the body, leading to metabolic dysfunction.
In Type II Ataxia with Lactic Acidosis, these two symptoms coexist and are caused by genetic mutations affecting the body's ability to produce energy efficiently within cells. These mutations typically impact the function of mitochondria, the cellular powerhouses responsible for generating energy. As a result, affected individuals experience impaired energy production, leading to the accumulation of lactic acid.
The onset of symptoms associated with Type II Ataxia with Lactic Acidosis typically occurs in childhood, though the severity and specific symptoms may vary. Common signs may include muscle weakness, uncoordinated movements, balance problems, difficulty swallowing, impaired speech, and episodes of muscle cramps or fatigue. Additionally, individuals often experience symptoms of lactic acidosis, such as nausea, vomiting, rapid breathing, abdominal pain, and lethargy.
Type II Ataxia with Lactic Acidosis is considered an autosomal recessive disorder, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. Diagnosis is typically made through genetic testing, which can identify the presence of specific gene mutations associated with this disorder.
Currently, there is no known cure for Type II Ataxia with Lactic Acidosis. Treatment mainly focuses on managing symptoms and supporting affected individuals to optimize their quality of life. This may involve
