*shiver* Date Posted: Mar 30, 2009 #19 Never heard of him. Probably a good reason for that. Thread Status: Not open for further replies. [ign.com]

She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.es]

Get Update Overview Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy [diseaseinfosearch.org]

[…] juvenile-onset Dystonia, DOPA-responsive, autosomanl recessive Dystonia-deafness syndrome DYT1 DYT10 DYT11 DYT11, DRD2 related DYT12 DYT16 DYT18 DYT2 DYT24 DYT25 DYT27 DYT3 DYT4 DYT5A DYT6 DYT8 Early infantile epileptic encephalopathy Emery-Dreifuss [qlinics.com]

[…] rare disease Autosomal recessive spastic ataxia with leukoencephalopathy Disease definition A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia [orpha.net]

Related phenotypes are hyperreflexia and cerebellar hypoplasia [malacards.org]

Definition A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. [uniprot.org]

Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. [ncbi.nlm.nih.gov]

Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. [mendelian.co]

18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. [uniprot.org]

Dysmetria MedGen UID: 68583 • Concept ID: C0234162 • Finding A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances [ncbi.nlm.nih.gov]

Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]

A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

manifestations of ataxic disorders. [books.google.com]

Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric [books.google.es]

manifestations beginning in childhood relate to complementation group Ataxia Telangiectasia Progressive ataxia plus Autosomal recessive 11q22-q23 ATM gene Product belongs to the P-13 kinase family of proteins involved in DNA damage recognition Ataxia [emedicine.medscape.com]

Abnormal saccadic eye movements Abnormality of higher mental function Abnormality of ocular smooth pursuit Jerky ocular pursuit movements Abnormal head movements Jerky head movements Simultanapraxia Generalized hyperpigmentation Optic atrophy Aspiration [mendelian.co]