Biomaterial Database

[Late manifestation of GM1 gangliosidosis in an adult. An unusual case of multiple sclerosis]. 1998

I Genty, and R Jean, and J M Durand, and G Kaplanski, and J Soubeyrand

UI	MeSH Term	Description	Entries
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D009103	Multiple Sclerosis	An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)	MS (Multiple Sclerosis),Multiple Sclerosis, Acute Fulminating,Sclerosis, Disseminated,Disseminated Sclerosis,Sclerosis, Multiple
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D005334	Fever	An abnormal elevation of body temperature, usually as a result of a pathologic process.	Pyrexia,Fevers,Pyrexias
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016537	Gangliosidosis, GM1	An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal accumulation of G(M1) GANGLIOSIDE and oligosaccharides, primarily in neurons of the central nervous system. The infantile form is characterized by MUSCLE HYPOTONIA, poor psychomotor development, HIRSUTISM, hepatosplenomegaly, and facial abnormalities. The juvenile form features HYPERACUSIS; SEIZURES; and psychomotor retardation. The adult form features progressive DEMENTIA; ATAXIA; and MUSCLE SPASTICITY. (From Menkes, Textbook of Child Neurology, 5th ed, pp96-7)	G(M1) Gangliosidosis,Adult GM1 Gangliosidosis,Beta-Galactosidase-1 (GLB1) Deficiency,Beta-Galactosidase-1 Deficiency Disease,Beta-Galactosidosis,GLB1 Deficiency,GM1 Gangliosidosis,GM1-Gangliosidosis, Type I,GM1-Gangliosidosis, Type II,GM1-Gangliosidosis, Type III,Gangliosidosis G(M1),Gangliosidosis GM1,Gangliosidosis GM1 Type 3,Gangliosidosis GM1, Adult,Gangliosidosis GM1, Infantile,Gangliosidosis GM1, Juvenile,Gangliosidosis GM1, Type 1,Gangliosidosis GM1, Type 2,Gangliosidosis GM1, Type 3,Gangliosidosis Generalized GM1, Type 1,Gangliosidosis, Generalized GM1 Type 2,Gangliosidosis, Generalized GM1, Adult Type,Gangliosidosis, Generalized GM1, Chronic Type,Gangliosidosis, Generalized GM1, Infantile Form,Gangliosidosis, Generalized GM1, Juvenile Type,Gangliosidosis, Generalized GM1, Type 1,Gangliosidosis, Generalized GM1, Type 2,Gangliosidosis, Generalized GM1, Type 3,Gangliosidosis, Generalized GM1, Type I,Gangliosidosis, Generalized GM1, Type II,Gangliosidosis, Generalized GM1, Type III,Generalized Gangliosidosis,Type 3 (Adult) GM1 Gangliosidosis,beta Galactosidase 1 Deficiency,beta Galactosidase Deficiency,beta-Galactosidase Deficiency,beta-Galactosidase-1 Deficiency,Beta Galactosidase 1 Deficiency Disease,Beta Galactosidosis,Deficiencies, GLB1,Deficiency, GLB1,Deficiency, beta Galactosidase,Deficiency, beta-Galactosidase,Deficiency, beta-Galactosidase-1,GM1 Gangliosidosis, Adult,GM1 Gangliosidosis, Type I,GM1 Gangliosidosis, Type II,GM1 Gangliosidosis, Type III,GM1-Gangliosidoses, Type I,GM1-Gangliosidoses, Type II,GM1-Gangliosidoses, Type III,Gangliosidosis, Adult GM1,Infantile Gangliosidosis GM1,Juvenile Gangliosidosis GM1,Type I GM1-Gangliosidoses,Type I GM1-Gangliosidosis,Type II GM1-Gangliosidoses,Type II GM1-Gangliosidosis,Type III GM1-Gangliosidoses,Type III GM1-Gangliosidosis
D017668	Age of Onset	The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.	Age-at-Onset,Age at Onset,Onset Age