![]() ![]() Journal of the American Academy of Child and Adolescent Psychiatry. Slowly progressive psychiatric symptoms: Think metachromatic leukodystrophy. Disease specific therapies in leukodystrophies and leukoencephalopathies. This results in damage to the function of nerve cells in the brain, spinal cord and peripheral nerves. The buildup of sulfatides is toxic, destroying the myelin-producing cells ― also called white matter ― that protect the nerves. This is caused by a mutation in the PSAP gene. Rarely, metachromatic leukodystrophy is caused by a deficiency in another kind of protein (activator protein) that breaks down sulfatides. This mutation results in a lack of the enzyme that breaks down lipids called sulfatides that build up in the myelin. The most common cause of metachromatic leukodystrophy is a mutation in the ARSA gene. The affected child inherits two copies of the abnormal gene - one from each parent. To inherit an autosomal recessive disorder, both parents must be carriers, but they do not typically show signs of the condition. The abnormal recessive gene is located on one of the nonsex chromosomes (autosomes). The condition is inherited in an autosomal recessive pattern. Metachromatic leukodystrophy is an inherited disorder caused by an abnormal (mutated) gene. Talk to your doctor if you observe any signs listed above or if you have concerns about your own signs or symptoms. Adults may survive for several decades after initial symptoms. The course of this form varies, with periods of stable symptoms and periods of rapid decline in functioning. Psychotic symptoms such as delusions and hallucinations may occur. Signs progress slowly and may begin with behavior and psychiatric problems, drug and alcohol misuse, and issues with school and work. This form is less common and typically starts after age 16. Although the juvenile form doesn't progress as fast as the late infantile form, survival is generally less than 20 years after symptoms begin. Early signs are behavior and cognitive problems and increasing difficulty in school. This is the second most common form and starts in children between 3 and 16 years of age. Children with this form often do not survive beyond childhood. Progressive loss of speech and muscle function occurs rapidly. This is the most common form of metachromatic leukodystrophy, starting around 2 years of age or younger. Emotional and behavioral problems, including unstable emotions and substance misuseĮach form of metachromatic leukodystrophy occurs at a different age and can have different initial signs and symptoms and rates of progression:.Stiff, rigid muscles, poor muscle function and paralysis.Loss of motor skills, such as walking, moving, speaking and swallowing.Loss of intellectual, thinking and memory skills.Loss of the ability to detect sensations, such as touch, pain, heat and sound.Damage to the protective myelin covering the nerves results in progressive worsening of brain and nervous system functions, including: ![]()
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