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Leukodystrophies
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Lysosomal storage diseases
(39)
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Cholesteryl ester storage disease
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Metachromatic leukodystrophy
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Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Pseudo-Hurler polydystrophy
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Ashkenazi Jews topics
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List of Jews born in the former Russian Empire
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Autosomal recessive disorders
(21)
Cerebrotendinous xanthomatosis
Very long-chain acyl coenzyme A dehydrogenase deficiency
Cystathioninuria
Spinal muscular atrophy type 1
Familial mediterranean fever
Familial mediterranean fever
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Cystinuria
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Tay Sachs disease
Krabbe disease
Niemann Pick disease
Gaucher disease
Fanconi anemia
Mucolipidosis IV
Bloom syndrome
Familial dysautonomia
Metachromatic leukodystrophy
Batten disease
Pompe disease
Mucopolysa- ccharidosis
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Genetic disorders
(36)
Genetic diseases
Charcot-Marie Tooth Disease
Crouzonode- rmoskeletal syndrome
Spondyloep- imetaphyseal dysplasia, Strudwick type
Myotonic dystrophy
Myotonic dystrophy
Chromosome abnormalities
Coffin-lowry syndrome
Chronic granulomatous disease
Aicardi syndrome
Klinefelter syndrome
Tay Sachs disease
Krabbe disease
Niemann Pick disease
Gaucher disease
Adrenoleuk- odystrophy
Fanconi anemia
Mucolipidosis IV
Alexander disease
Bloom syndrome
Leukodystrophies
Pelizaeus-- merzbacher disease
Metachromatic leukodystrophy
Batten disease
Pompe disease
Cerebrotendinous xanthomatosis
Very long-chain acyl coenzyme A dehydrogenase deficiency
Cystathioninuria
Spinal muscular atrophy type 1
Familial mediterranean fever
Cerebrohepatorenal syndrome
Mucopolysa- ccharidosis
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Torsion dystonia
Cystinuria
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
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Diseases and disorders
(57)
Canavan-van bogaert-bertrand disease
Vocal tic disorder
Leukodystrophy
Chemical pneumonitis
Cancer of the kidney
Cancer of the kidney
Macrocephaly
Cancer of the skin
Hypotonia
Feeding difficulties
Chromosome 5p- syndrome
Alzheimer disease type 2
Progressive supranuclear palsy
Dysmyelination
Glycogen storage disease
Coccidioidomycosis
Optic atrophy
Demyelination
Congenital facial diplegia
Complex regional pain syndromes
Cushing syndrome
Megalocephaly
Infant botulism
Cerebral gigantism
Phytanic acid storage disease
Chronic Progressive External Ophthalmoplegia
Hypomyelination
Neurological disorders
Menkes syndrome
Temporal arteritis
Kernicterus
Tay Sachs disease
Krabbe disease
Niemann Pick disease
Gaucher disease
Fanconi anemia
Mucolipidosis IV
Alexander disease
Bloom syndrome
Familial dysautonomia
Charcot-Marie Tooth Disease
Pelizaeus-- merzbacher disease
Metachromatic leukodystrophy
Batten disease
Pompe disease
Cerebrotendinous xanthomatosis
Spondyloep- imetaphyseal dysplasia, Strudwick type
Spinal muscular atrophy type 1
Myotonic dystrophy
Chromosome abnormalities
Familial mediterranean fever
Cerebrohepatorenal syndrome
Mucopolysa- ccharidosis
Coffin-lowry syndrome
Chronic granulomatous disease
Cystinuria
Carnitine palmitoylt- ransferase II deficiency
Klinefelter syndrome
more...
Symptoms
(8)
Reflux
Seizure
Abnormal muscle tone
Inability to walk
Decreased muscle tone
Decreased muscle tone
Macrocephaly
Hypotonia
Feeding difficulties
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Signs and tests
CSF chemistry
Head CT
Head MRI scan
Joint stiffness
Urine chemistry
See also
(20)
Cerebellar herniation
Cancer of the bile ducts
Aspartoacylase
Chlamydia infection
Myrtelle Canavan
Myrtelle Canavan
N-acetylaspartic acid
Myelin sheath
Mutation analysis
Chromosome analysis
Lipoprotein lipase deficiency, familial
Paola Leone
Aspartic acid
Canavan
Central nervous system
Enzyme
The Myelin Project
The Stennis Foundation
White matter of the brain
Www.canava- nfoundation.org
Spongy tissue
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