Biomaterial Database

[Segawa's disease: progressive dystonia responsive to L-dopa. A case report]. 1993

A de Q Araújo, and S B Miranda

Neurologista-pesquisador da Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brasil.

Segawa's disease (SD) is a hereditary progressive dystonia with marked diurnal fluctuation with onset in childhood or adolescence and a striking responsiveness to L-dopa. Here we describe a typical case of SD in a 28 year old woman whose disease begun at the age of 18 years. This patient had a second cousin with probable hereditary spastic paraplegia (Strumpell's familiar spastic paraplegia) who had no benefit on a recent L-dopa trial. Due to this family history our patient had been misdiagnosed as Strumpell's disease for more than 10 years. There was no other apparent case of SD in the family. Her father had an atypical gait but was otherwise normal. Her daughter had motor developmental delay due to hypotonia. Pes cavus was a common feature to the patient, her father and her cousin.

UI	MeSH Term	Description	Entries
D007980	Levodopa	The naturally occurring form of DIHYDROXYPHENYLALANINE and the immediate precursor of DOPAMINE. Unlike dopamine itself, it can be taken orally and crosses the blood-brain barrier. It is rapidly taken up by dopaminergic neurons and converted to DOPAMINE. It is used for the treatment of PARKINSONIAN DISORDERS and is usually given with agents that inhibit its conversion to dopamine outside of the central nervous system.	L-Dopa,3-Hydroxy-L-tyrosine,Dopaflex,Dopar,L-3,4-Dihydroxyphenylalanine,Larodopa,Levopa,3 Hydroxy L tyrosine,L 3,4 Dihydroxyphenylalanine,L Dopa
D009460	Neurologic Examination	Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.	Examination, Neurologic,Neurological Examination,Examination, Neurological,Examinations, Neurologic,Examinations, Neurological,Neurologic Examinations,Neurological Examinations
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
D004421	Dystonia	An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)	Muscle Dystonia,Dystonia, Diurnal,Dystonia, Limb,Dystonia, Paroxysmal,Diurnal Dystonia,Dystonia, Muscle,Limb Dystonia,Paroxysmal Dystonia
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D001545	Benserazide	An inhibitor of DOPA DECARBOXYLASE that does not enter the central nervous system. It is often given with LEVODOPA in the treatment of parkinsonism to prevent the conversion of levodopa to dopamine in the periphery, thereby increasing the amount that reaches the central nervous system and reducing the required dose. It has no antiparkinson actions when given alone.	Serazide,Seryltrihydroxybenzylhydrazine,DL-Serine 2-((2,3,4-trihydroxyphenyl)methyl)hydrazide,Ro 4-4602,Seryltrihydroxy Benzylhydrazine,Benzylhydrazine, Seryltrihydroxy,Ro 4 4602,Ro 44602