Woman With X-Linked Recessive Dystonia-Parkinsonism
نویسندگان
چکیده
منابع مشابه
Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3).
Pathological findings in dystonia have been unclear. X-linked recessive dystonia-parkinsonism (XDP, DYT3), endemic in the Panay island, the Philippines, is characterized by the clinical onset with dystonia followed by parkinsonism. It provides a unique opportunity to explore the anatomical basis of dystonia, because it has discernible pathological changes even at its early phase of dystonia. Af...
متن کاملReviews Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)
Sex linked dystonia parkinsonism (XDP), also referred to as “lubag” in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the...
متن کاملSex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).
Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the...
متن کاملComplicated recessive dystonia parkinsonism syndromes.
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of inves...
متن کاملX-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics
The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2014
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2014.56