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Results: 4

1.

Metachromatic leukodystrophy

MedGen UID:
798209
Concept ID:
CN205202
Disease or Syndrome
2.

Leukodystrophy

Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. [from HPO]

MedGen UID:
505231
Concept ID:
CN002194
Finding
3.

Metachromatic leukodystrophy

Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD (50%-60% of cases); juvenile MLD (20%-30% of cases); and adult MLD (15%-20% of cases). Age of onset within a family is usually similar. The disease course may be from three to ten or more years in the late-infantile form and up to 20 years or more in the juvenile and adult forms. Late-infantile MLD. Onset is between ages one and two years. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and slurred speech. Later signs include inability to stand, difficulty with speech, deterioration of mental function, increased muscle tone, pain in the arms and legs, generalized or partial seizures, compromised vision and hearing, and peripheral neuropathy. In the final stages children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD. Onset is between age four years and sexual maturity (age 12-14 years). Initial manifestations include decline in school performance and emergence of behavioral problems, followed by clumsiness, gait problems, slurred speech, incontinence, and bizarre behaviors. Seizures may occur. Progression is similar to but slower than the late-infantile form. Adult MLD. Onset occurs after sexual maturity, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, alcohol or drug abuse, poor money management, and emotional lability; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures predominate initially. Peripheral neuropathy is common. Disease course is variable, with periods of stability interspersed with periods of decline, and may extend over two to three decades. The final stage is similar to that for the earlier-onset forms. [from GeneReviews]

MedGen UID:
6071
Concept ID:
C0023522
Disease or Syndrome
4.

Leukodystrophy

A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease. [from NCI]

MedGen UID:
6070
Concept ID:
C0023520
Disease or Syndrome

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