metachromatic leukodystrophy…

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mld, arylsulfatase a deficiency, metachromatic leukodystrophy, mld, genetic disorder, nerves, muscles, organs, gets progressively worse over time, mld, lack of an important enzyme, arylsulfatase a, enzyme is missing, chemicals, sulfatides accumulate, in the nervous system, kidneys, gallbladder, organs, sulfatides damage the nerves, organs where buildup occurs, in particular, damages the myelin sheaths that surround nerve cells, three forms, the symptoms begin, late infantile, begin by age 4, symptoms include problems walking, loss of muscle control, loss of mental functions, juvenile, symptoms begin between 4, 6 years old, child has trouble walking, loses developmental milestones, first sign deteriorating school performance, adult, the late juvenile, age 6-16 age, adult, over age 16, forms progress slowly, early signs behavior problems, loss of mental functions, poor school, work performance, seizures, loss of muscle control, metachromatic leukodystrophy, a mutation, in the gene that makes arylsulfatase a, disease is inherited, an autosomal recessive genetic disorder, that an affected person inherits a copy, the defective gene from both parents, a person who inherits a defective gene from only one parent, not affected, two "carrier", unaffected, parents have a child, 25% chance that the child, inherit the gene from both parents, happens, child, have mld, metachromatic leukodystrophy occurs in, 1 per 40,000 people, irritability, decreased muscle tone, abnormal high muscle tone, spasticity, abnormal muscle movements, falls frequently, decreased intellectual functioning, speech difficulties, slurring, feeding difficulties, swallowing difficulty, nerve function abnormality, seizures, signs, decreased, absent deep tendon reflexes, abnormal eye movements, poor visual fixation, optic nerve atrophy, decorticate posturing, coma, tests, nerve velocity conduction studies, mri, ct scan, lumbar puncture to examine the cerebrospinal fluid, would show increased csf total protein, nerve biopsy, the tissue is then stained to look, particular color, metachromatic, pattern, urine chemistry, to look, very high sulfatide levels, urinalysis, culture of skin fibroblasts, white blood cells, to look, low arylsulfatase a activity, blood test, to look, low arylsulfatase a enzyme levels, no cure, mld, care focuses on treating the symptoms, preserving the patient's quality of life, research is ongoing to study techniques to replace the deficient enzyme, arylsulfatase a, the united leukodystrophy association at, ulf, call 800-728-5483, mld, severely debilitating, progressive disease, outlook is poor, individuals, expected to die prematurely, earlier the age of diagnosis, rapid the progression, genetic counseling, family history of this disorder.