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<a href="http://doi.org/10.1212/01.wnl.0000194208.08904.0c" target="_blank" rel="noreferrer">http://doi.org/10.1212/01.wnl.0000194208.08904.0c</a>
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Title
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Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials
Publisher
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Neurology
Date
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2006
Subject
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Female; Humans; Male; Child Development; Longevity; Infant Behavior; infant; Q3 Literature Search; Language Development; Motor Skills; Reflex; Muscle Hypotonia/etiology/physiopathology; Neurodegenerative Diseases/complications/physiopathology/psychology; Niemann-Pick Diseases/classification/complications/physiopathology/psychology; Respiratory Insufficiency/etiology/mortality; Stretch
Creator
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McGovern MM; Aron A; Brodie SE; Desnick RJ; Wasserstein MP
Description
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OBJECTIVE: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). METHODS: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic, ophthalmologic, and physical examinations, and assessment of development. Laboratory analyses, abdominal and brain ultrasounds, and chest radiographs also were obtained and information on intercurrent illnesses and cause of mortality was collected. RESULTS: All affected infants had a normal neonatal course and early development. The first symptom detected in all patients was hepatosplenomegaly. Developmental age did not progress beyond 10 months for adaptive behavior, 12 months for expressive language, 9 months for gross motor skills, and 10 months for fine motor skills. Non-neurologic symptoms included frequent vomiting, failure to thrive, respiratory infections, irritability, and sleep disturbance. Neurologic examination at the time of presentation was normal in most patients. Later neurologic examinations revealed progressive hypotonia with loss of the deep tendon reflexes. All patients had cherry red spots by 12 months. The median time from diagnosis to death was 21 months. The cause of death was respiratory failure in nine patients and complications from bleeding in the tenth. CONCLUSIONS: The clinical course in Type A Niemann-Pick disease is similar among affected patients and is characterized by a relentless neurodegenerative course that leads to death, usually within 3 years.
2006
Identifier
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<a href="http://doi.org/10.1212/01.wnl.0000194208.08904.0c" target="_blank" rel="noreferrer">10.1212/01.wnl.0000194208.08904.0c</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2006
Aron A
Backlog
Brodie SE
Child Development
Desnick RJ
Female
Humans
Infant
Infant Behavior
Journal Article
Language Development
Longevity
Male
McGovern MM
Motor Skills
Muscle Hypotonia/etiology/physiopathology
Neurodegenerative Diseases/complications/physiopathology/psychology
Neurology
Niemann-Pick Diseases/classification/complications/physiopathology/psychology
Q3 Scoping Review Results
Reflex
Respiratory Insufficiency/etiology/mortality
Stretch
Wasserstein MP