## Abstract Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. There is marked diurnal fluctuation and sustained improvement of symptoms with low dose levodopa therapy. H
✦ LIBER ✦
Phenotypic heterogeneity and full penetrance in a family with dopa-responsive dystonia
✍ Scribed by S Karkheiran; B Hubert; HN Moghaddam; H Darvish; C Paisán-Ruiz
- Book ID
- 119839662
- Publisher
- John Wiley and Sons
- Year
- 2013
- Tongue
- English
- Weight
- 583 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Novel GCH1 mutation in a Brazilian famil
✍
Sarah Teixeira Camargos; Francisco Cardoso; Parastoo Momeni; Juliana Gurgel Gian
📂
Article
📅
2007
🏛
John Wiley and Sons
🌐
English
⚖ 78 KB
A new mutation of GCH1 in triplets famil
✍
N. Tachi; S. Takahashi; M. Jo; M. Shinoda
📂
Article
📅
2011
🏛
John Wiley and Sons
🌐
English
⚖ 126 KB
High penetrance and pronounced variation
✍
D. Steinberger; Y. Weber; R. Korinthenberg; G. Deuschl; R. Benecke; J. Martinius
📂
Article
📅
1998
🏛
John Wiley and Sons
🌐
English
⚖ 533 KB
Alcohol-responsive myoclonic dystonia in
✍
Dr. M. Kyllerman; L. Forsgren; G. Sanner; G. Holmgren; J. Wahlström; U. Drugge
📂
Article
📅
1990
🏛
John Wiley and Sons
🌐
English
⚖ 888 KB
## Abstract Alcohol‐responsive myoclonic dystonia is reported in 26 individuals in a six‐generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution wa
Novel non-sense GCH1 mutation in a South
✍
S. Bardien; R. Keyser; D. Lombard; M. Du Plessis; H. Human; J. Carr
📂
Article
📅
2009
🏛
John Wiley and Sons
🌐
English
⚖ 217 KB
Spinocerebellar ataxia type 3 presenting
✍
E Wilder-Smith; E.K Tan; H.Y Law; Y Zhao; I Ng; M.C Wong
📂
Article
📅
2003
🏛
Elsevier Science
🌐
English
⚖ 133 KB