X-linked Parkinsonism-Spasticity Syndrome
, Autosomal Dominant Dystonia, Progressive, With Diurnal Variation Dystonia-Parkinsonism With Diurnal Fluctuation Segawa Syndrome, Autosomal Dominant DRD DYT5 128230 Genetic[ukgtn.nhs.uk]
[…] and Parkinsonism Disorders 28 Gene Panel 0 Genetic Test Registry Dystonia, Dopa-Responsive Dopa-Responsive Dystonia, Autosomal Dominant Dystonia 5 Dystonia, Dopa-Responsive[ukgtn.nhs.uk]
Kinesigenic, With Episodic Ataxia And Spasticity Choreoathetosis/Spasticity, Episodic CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia DYT9 601042 Genetic Test Registry Dystonia[ukgtn.nhs.uk]
Pyridoxine Dependency Syndrome
, Dopa-Responsive Dopa-Responsive Dystonia, Autosomal Dominant Dystonia 5 Dystonia, Dopa-Responsive, Autosomal Dominant Dystonia, Progressive, With Diurnal Variation Dystonia-Parkinsonism[ukgtn.nhs.uk]
With Diurnal Fluctuation Segawa Syndrome, Autosomal Dominant DRD DYT5 128230 Genetic Test Registry Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency Sepiapterin[ukgtn.nhs.uk]
220100 Genetic Test Registry D-2-Hydroxyglutaric Aciduria 1 D2HGA1 600721 Genetic Test Registry Dopamine Beta-Hydroxylase Deficiency, Congenital 223360 Genetic Test Registry Dystonia[ukgtn.nhs.uk]
Pallidopyramidal Syndrome
Our patient had no diurnal variation and had left-sided pyramidal sign excluding the possibilities of young onset Parkinson's disease and dopa-responsive dystonia.[neurologyindia.com]
Such a patient may simulate young onset parkinsonian disease, dopa-responsive dystonia and Wilson's disease.[neurologyindia.com]
Autosomal Dominant Spastic Paraplegia Type 9A
The age of onset is around 6 years and they may present with gait disturbance which may caused by lower limb dystonia with diurnal variation that may gradually progression[explainmedicine.com]
[…] to generalized dystonia.[explainmedicine.com]
X-Linked Spastic Paraplegia Type 34
The age of onset is around 6 years and they may present with gait disturbance which may caused by lower limb dystonia with diurnal variation that may gradually progression[explainmedicine.com]
[…] to generalized dystonia.[explainmedicine.com]
Autosomal Recessive Spastic Paraplegia Type 25
The age of onset is around 6 years and they may present with gait disturbance which may caused by lower limb dystonia with diurnal variation that may gradually progression[explainmedicine.com]
[…] to generalized dystonia.[explainmedicine.com]
Spastic Paraparesis-Deafness Syndrome
The age of onset is around 6 years and they may present with gait disturbance which may caused by lower limb dystonia with diurnal variation that may gradually progression[explainmedicine.com]
[…] to generalized dystonia.[explainmedicine.com]
Spastic Paraplegia
The age of onset is around 6 years and they may present with gait disturbance which may caused by lower limb dystonia with diurnal variation that may gradually progression[explainmedicine.com]
[…] to generalized dystonia.[explainmedicine.com]
Spasmodic Torticollis
A class of dystonia with marked diurnal variation characterised by freedom from dystonic movements and postures in the morning and worsening of dystonia in the afternoon and[jnnp.bmj.com]
The relation of this to the subclass of dystonia with diurnal variation of Segawa et al 17 which is often coupled with features of parkinsonism and responsiveness to levodopa[jnnp.bmj.com]
Pure Hereditary Spastic Paraplegia
The age of onset is around 6 years and they may present with gait disturbance which may caused by lower limb dystonia with diurnal variation that may gradually progression[explainmedicine.com]
[…] to generalized dystonia.[explainmedicine.com]