Dystonia with Diurnal Variation Causes & Reasons

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Dystonia with Diurnal Variation Symptom Checker: Possible causes include Autosomal Dominant Spastic Paraplegia Type 9A. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

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]

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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]

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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]

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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]

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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]

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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]

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Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

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]

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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]

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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]

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Polydactyly of a Biphalangeal Thumb

[…] musculorum deformans type 1 Dystonia musculorum deformans type 2 Dystonia musculorum deformans Dystonia progressive with diurnal variation Dystonia Dystrophia myotonica Dystrophic [wikidoc.org]

[…] syndrome Dysprothrombinemia Dysraphism cleft lip palate limb reduction defects Dyssegmental dysplasia glaucoma Dyssegmental dysplasia Silverman Handmaker type Dyst Dysthymia Dystonia [wikidoc.org]

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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]

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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]

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Aromatic L-Amino Acid Decarboxylase Deficiency

Tremor Drug-induced dyskinesias Chorea Dystonia (disorder of muscle control) Diurnal variation/improvement of neurologic symptoms after sleep Autonomic dysfunction Diaphoresis [aadcresearch.org]

The symptoms often, but not always, show a marked diurnal variation. [jn.nutrition.org]

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Hyperglycinuria

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]

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Juvenile Paralysis Agitans of Hunt

Ouvrier, R.A. (1978) Progressive dystonia with marked diurnal variation. Ann. Neurol., 4: 412-417. Pezzoli, G., A.E. Panerai, A. DiGiulio, A. Longo, D. Passerini and A. [kundoc.com]

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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]

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Dyschondrosteosis-Nephritis Syndrome

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Psychogenic Movement Disorders

variation Table 2: Features suggestive of organic rather than functional intermittent dystonia [37]. [pediatrics.imedpub.com]

[…] remission Task-specificity or action induction Normal neurological exam Relief through sensory trick Worsening with stress and relief by relaxation Paroxysmal appearance or diurnal [pediatrics.imedpub.com]

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Jankovic Rivera Syndrome

[…] progressive with familial juvenile systemic Dysmorphic facial features and Chronic B-cell leukemia diurnal variation Granulomatosis Organic per sonality syndrome Organoid [yumpu.com]

[…] autosomal dominant Dopa- familial Blau type Granulomatosis Ornithinemia Thalamic syndrome Lymphoma B-Cell responsive dystonia progressive with diurnal Jackson-Barr syndrome [yumpu.com]

Oro acral syndrome Dejerine Roussy syndrome B-cell prolymphocytic leukaemia variation Dystonia Deafness conductive Orocraniodigital syndrome Thalassemia Segawa syndrome autosomal [yumpu.com]

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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]

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Syndesmodysplasic Dwarfism

[…] syndrome Dysprothrombinemia Dysraphism cleft lip palate limb reduction defects Dyssegmental dysplasia glaucoma Dyssegmental dysplasia Silverman Handmaker type Dysthymia Dystonia [bioreference.net]

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Adult-Onset Cervical Dystonia Type DYT23

Segawa M, Hosaka A, Miyagawa F et al (1976) Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14:215–233 PubMed Google Scholar 33. [link.springer.com]

Steinberger D, Weber Y, Korinthenberg R et al (1998) High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia [link.springer.com]

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Hawkinsinuria

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]

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Autosomal Recessive Spastic Paraplegia Type 63

[…] or parkinsonism Dopa-responsive dystonia GCH1 AD Brisk reflexes Spasticity Extensor plantar responses Young-onset dystonia parkinsonism responsive to levodopa Diurnal variation [ncbi.nlm.nih.gov]

Paraplegia neuropathy Dementia On MRI: leukodystrophy, adrenal dysfunction, long-chain fatty acid accumulation Spinocerebellar ataxia type 28 AFG3L2 AD Paraplegia Ataxia Rare dystonia [ncbi.nlm.nih.gov]

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6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology 1988;38:707-711. Ichinose H, Ohye T, Takahashi E, et al. [dokumen.tips]

variation of symptoms. [dokumen.tips]

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994; 8:236-242. [dokumen.tips]

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Autosomal Recessive Spastic Paraplegia Type 21

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Oculootoradial Syndrome

[…] progressive with familial juvenile systemic Dysmorphic facial features and Chronic B-cell leukemia diurnal variation Granulomatosis Organic per sonality syndrome Organoid [yumpu.com]

[…] autosomal dominant Dopa- familial Blau type Granulomatosis Ornithinemia Thalamic syndrome Lymphoma B-Cell responsive dystonia progressive with diurnal Jackson-Barr syndrome [yumpu.com]

Oro acral syndrome Dejerine Roussy syndrome B-cell prolymphocytic leukaemia variation Dystonia Deafness conductive Orocraniodigital syndrome Thalassemia Segawa syndrome autosomal [yumpu.com]

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Autosomal Recessive Spastic Paraplegia Type 7

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Extrapyramidal Disorder

[…] and there is excellent response to small doses of levodopa.  Diurnal variation, worsen with day progresses Focal dystonia is a most common, 4th to 6th decade and more common [slideshare.net]

 Dopa responsive dystonia ( Segawa variant) dominantly inherited form of dystonia in early childhood 1-12yrs typically present with foot dystonia resulting in gait disturbance [slideshare.net]

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Dincsoy-Salih-Patel Syndrome

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