Dystonia: Causes & Reasons

Possible Causes for Dystonia

Stuttering reduction was noted when frequency was changed to 80 Hz, but the previously observed dystonia improvement was lost. [ncbi.nlm.nih.gov]

The prevalence of GCH1 mutations in probands was different between PD [1.9% (5/268)] and DRD [26.9% (7/26)] (p value KEYWORDS: Dopa-responsive dystonia; Dystonia; GCH1; Genetics [ncbi.nlm.nih.gov]

SUBJECTS/PATIENTS: Six patients with Parkinson's disease with deep brain stimulation experiencing disabling foot dystonia. [ncbi.nlm.nih.gov]

Progressive Supranuclear Palsy

In this mini-review, I reviewed effects of zolpidem as movement disorders including Parkinsons disease, progressive supranuclear palsy, dystonia and so on. [doi.org]

(xv) Extra axial-dystonia: the presence of dystonia in any body part apart from trunk and neck. [doi.org]

Set 2: tremor, bradykinesia, asymmetric onset, non-axial dystonia, response to levodopa. [doi.org]

Niemann-Pick Disease Type C

Both patients were evaluated for dystonia and ataxia using the Dystonia Movement Scale (DMS, maximum score 120) and Scale for the assessment and rating of ataxia (SARA, maximum [mdsabstracts.org]

[…] splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia [orpha.net]

NPC could masquerade as a pure neuropsychiatric disorder such as dystonia or schizophrenia. [ncbi.nlm.nih.gov]

Meige Syndrome

Oromandibular dystonia (OMD) may be characterized by dystonic spasms affecting the jaw, mouth, and lower face. The tongue may be involved as in lingual dystonia. [web.archive.org]

Meige's Syndrome (also known as Cranial Dystonia or Oral Facial Dystonia) and is actually a combination of two forms of dystonia – Eye Dystonia (Blepharospasm) and Mouth, [myjourneywithcervicaldystonia.blogspot.com]

[…] syndrome is an adult-onset dystonic movement disorder that predominantly involves facial muscles, while some patients with this syndrome develop spasmodic dysphonia and dystonia [ncbi.nlm.nih.gov]

Torticollis

If a close family member has cervical dystonia or some other type of dystonia, you are at higher risk of developing the disorder. [mayoclinic.org]

Cervical dystonia, spasmodic torticollis, and wry neck all refer to the same disease. This is when the constant contraction of muscles forces the movement of the neck. [bellaireneurology.com]

dystonia 26 days agoRead Pallidal Activity in Cervical Dystonia with and Without Head Tremor 17 days agoRead 127 Audit of poor response to botulinum toxin in cervical dystonia [terkko.helsinki.fi]

Aromatic L-Amino Acid Decarboxylase Deficiency

[…] include: tyrosine hydroxylase deficiency (TH deficiency); aromatic L-amino acid decarboxylase deficiency (ALADD or AADC); GTP-1 cyclohydrolase deficiency (dopa-responsive dystonia [acronymfinder.com]

Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. [thieme-connect.com]

Aromatic L-amino Acid Decarboxylase Deficiency Recommended genes panels Panel Name, Specifity and genes Tested/covered Dystonia. [mendelian.co]

Drug-Induced Dystonia

Moreover, a serious and debilitating form of the disorder called tardive dystonia may follow. There are no tests tailored to diagnose drug-induced dystonia. [symptoma.com]

Tardive dystonia Tardive dystonia is a more taxing condition as it can be permanent. [dystonia.org.uk]

Another type of drug-induced dystonia is called tardive dystonia. [dystonia-foundation.org]

Cerebrotendinous Xanthomatosis

The neurologic manifestations are ample and may include ataxia, dystonia, epilepsy, intellectual disability, dementia, peripheral neuropathy, and parkinsonism. [ncbi.nlm.nih.gov]

[…] suicide attempts); pyramidal signs (spasticity, hyperreflexia, extensor plantar responses); cerebellar signs (progressive ataxia, dysarthria); movement disorder (parkinsonism, dystonia [ncbi.nlm.nih.gov]

Dystonia is mostly multifocal, with reports of blepharospasm, oromandibular, cervical, and limb dystonia (22). [ncbi.nlm.nih.gov]

Orofacial Dyskinesia

Oromandibular dystonia (OMD) is perhaps the most common of these and includes jaw opening, jaw closing, and jaw deviation dystonia. [link.springer.com]

What is tardive dystonia? Dystonia is also a movement disorder. [power2u.org]

2019 Billable/Specific Code Applicable To Dystonia deformans progressiva Dystonia musculorum deformans Familial torsion dystonia Idiopathic familial dystonia Idiopathic [icd10data.com]

Wilson Disease

Dystonia is chronic but the vast majority of dystonias do not affect other functions of the brain. [dystonia-europe.org]

The authors diagnosed acute focal dystonia induced by clomipramine. [ncbi.nlm.nih.gov]

Patients have been classified as having focal dystonia (cervical dystonia, cranial dystonia, or writer's cramp); segmental dystonia (cranio-cervical dystonia or neck/arm dystonia [dx.doi.org]

Athetoid Cerebral Palsy

Dystonia can be present in only one part of the body, known as focal dystonia, or throughout the whole body, known as generalised dystonia. [cerebralpalsy.org.au]

[…] foot, known as focal dystonia. [birthinjuryguide.org]

Cervical dystonia is another example of a focal dystonia – this is dystonia in the neck muscles which causes the neck to twist, tilt or rotate. [cerebralpalsy.org.au]

Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

Atypical parkinsonism-dystonia syndrome caused by a novel DJ1 mutation. [books.google.es]

Her research activity has focused on pathophysiology and treatment of Parkinsonian syndromes, Dystonia, Huntington’s disease and functional movement disorders. Dr. [books.google.es]

[…] autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia [diseaseinfosearch.org]

Primary Torsion Dystonia

Primary torsion dystonia (PTD) is a genetically heterogeneous, isolated form of dystonia. [symptoma.com]

Forty-six of them had segmental dystonia and 59 had focal dystonia. [ncbi.nlm.nih.gov]

Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9. [ncbi.nlm.nih.gov]

Adult-Onset Dystonia - Parkinsonism

Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia. [scielo.org.pe]

Keywords Dystonia Folinic Acid Carbidopa Biopterin Generalize Dystonia These keywords were added by machine and not by the authors. [link.springer.com]

Acronym PARK14 Synonyms Dystonia-parkinsonism adult-onset Dystonia-parkinsonism Paisan-Ruiz type Parkinson disease 14 autosomal recessive Keywords Disclaimer Any medical or [uniprot.org]

Cerebral Palsy

Primary outcomes were change in dystonia and adverse effects. [ncbi.nlm.nih.gov]

Screening for methemoglobinemia in children with dystonia, microcephaly, and progressive cerebellar atrophy can be helpful in identifying more cases. [ncbi.nlm.nih.gov]

We describe the importance of the order of dual neuromodulation surgery for dystonia and deafness. [ncbi.nlm.nih.gov]

Huntington Disease

Dystonia-predominant HD was defined by the severity of dystonia relative to the severity of chorea. Results Fifteen (11.8%) of 127 subjects had dystonia-predominant HD. [jamanetwork.com]

Chorea and dystonia are features that may be troublesome to some patients and may potentially prove unresponsive to pharmacological treatments. [ncbi.nlm.nih.gov]

Deep brain stimulator (DBS) implantation has been shown to be effective in the treatment of various movement disorders including Parkinson's disease, essential tremor and dystonia [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 53

Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia AD/AR 48 240 GJC2 Spastic paraplegia, Lymphedema, hereditary, Leukodystrophy [blueprintgenetics.com]

[…] hypoglycemia and body hemihypertrophy Pelizaeus-Merzbacher-like due to HSPD1 mutation CADDS Peters anomaly Severe motor and intellectual disabilities-sensorineural deafness-dystonia [csbg.cnb.csic.es]

Patients may also display dystonia, titubation (tremor) of the head, psychiatric symptoms, or cognitive impairment. 29,30 It is essential to determine vitamin E levels in [elsevier.es]

Methylmalonic Acidemia

This case of total body dystonia due to MMA in a 4-year-old boy had been medically refractory for 15 months. [ncbi.nlm.nih.gov]

A 14 month-old boy presented with an acute generalized dystonia and lethargy preceded by fever, vomiting and lethargy at the age of 13 months. [ncbi.nlm.nih.gov]

Severe generalized dystonia induced by metoclopramide in a girl with methylmalonic acidemia. Brain Dev. 2003 Mar. 25(2):144-5. [Medline]. [emedicine.medscape.com]

Postencephalitic Parkinson Disease

Elderly patients suffer from continuous deterioration of motor function with dysphagia, incontinence, Levo-Dopa induced psychoses, dystonia, and cognitive impairment. [alzheimer-europe.org]

Calne DB, Lang AE (1988) Secondary dystonia. Adv Neurol 50:9–33 Google Scholar 2. Calne DB, Langston JW (1983) Aetiology of Parkinson's disease. [link.springer.com]

Daniel SE 1993 24 Anti-tau-positive glial fibrillary tangles in the brain of postencephalitic parkinsonism of Economo type. ( 8121623 ) Ikeda K...Ikeda K 1993 25 Cranial dystonia [malacards.org]

Kernicterus

Both children have dystonia, athetosis, upward gaze palsy, and sensorineural hearing loss, with MRIs showing characteristic abnormal signal in the globus pallidus. [ncbi.nlm.nih.gov]

Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. [g6pddf.org]

[…] kernicterus (chronic bilirubin encephalopathy), a permanent disabling neurologic condition that is classically characterized by the extrapyramidal movement disorders of dystonia [blogs.nejm.org]

Fucosidosis

Even among the 4 other reported fucosidosis families having one or more individuals homozygous for this same (Q422X) mutation there was no previous report of dystonia. [ncbi.nlm.nih.gov]

She was bound to a wheelchair at 6 years of age, and developed dystonia at the age of 13 years. [ncbi.nlm.nih.gov]

First child of family was investigated because of severe spasticity and generalized dystonia. [annalsofian.org]

Central Nervous System Disorder

Movement disorders such as Parkinson’s disease, dystonia, and essential tremor are central nervous system conditions. [neuromodulation.com]

Chorea can be severe or may be replaced by other movement symptoms, including rigidity, dystonia, and bradykinesia. [web.archive.org]

Copper accumulation in the basal ganglia leads to Parkinsonian symptoms, including tremors and dystonia. [ajcn.nutrition.org]

Basal Ganglia Hemorrhage

Dystonia, asterixis, chorea and hypokinesia are reported after basal ganglia stroke, but restless leg syndrome (RLG), distinguished by a rather unpleasant sensation in the [symptoma.com]

Certain brain disorders like Huntington’s disease, Parkinson’s disease, Wilson’s disease, multiple system atrophy and dystonia can also cause basal ganglia stroke. [diseasespictures.com]

There are certain brain disorders, including Huntington’s disease, Parkinson’s disease, Wilson’s disease, multiple atrophy, and dystonia that can lead to a basal ganglia stroke [belmarrahealth.com]

Developmental and Epileptic Encephalopathy Type 17

The participant, a 15 year old female with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria [undiagnosed.hms.harvard.edu]

Patient 3 initially showed bradykinesia, rigidity and dystonia; patient 1 resting tremor. [jnnp.bmj.com]

Two of their patients had additional movement disorders including dystonia and chorea and athetosis. [epilepsygenetics.net]

Neuronal Ceroid Lipofuscinosis Type 3

Treatment Treatment Options: Treatment is primarily symptomatic for sleep disorders, seizures, psychoses, malnutrition, dystonia and spasticity. [disorders.eyes.arizona.edu]

Neurologic examination showed disorientation for time and space, impairment of short- and long-term memory, dysarthria, oromandibular dystonia, and naming deficit. [catalog.coriell.org]

Louis (296) Pharmacogenetics (280) Los Angeles (264) Houston (244) Hybrids (242) San Antonio (221) Arkansas (201) Dystonia (185) Chicago (180) UCLA Research Institute (175 [coriell.org]

Amyotrophic Lateral Sclerosis Type 2

1 ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. 6 56 61 24562058 2014 2 Novel mutation in the ALS2 gene in juvenile amyotrophic lateral [malacards.org]

[…] mutation associated with JPLS reveals new aspects of alsin biological function Full_Paper Sheerin 2014 ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia [alsod.iop.kcl.ac.uk]

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. [ghr.nlm.nih.gov]

Dystonia

dystonia", movements resembling dystonia, also known as "psychogenic dystonia." [bcm.edu]

Dystonia is chronic but the vast majority of dystonias do not affect other functions of the brain. [dystonia-europe.org]

Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome. [doi.org]

Myoclonus-Dystonia Syndrome 11

dystonia. [dystonia.ie]

Terms used to describe myoclonic dystonia include: myoclonus dystonia, inherited myoclonus-dystonia syndrome, DYT11 dystonia Note: Some researchers believe myoclonic dystonia [dystoniacanada.org]

Other genes associated with myoclonus-dystonia are not imprinted, and mutations that cause the condition can be inherited from either parent. dystonia 11 DYT11 myoclonus-dystonia [ghr.nlm.nih.gov]

Parkinson Disease Type 19A

Abstract Juvenile-onset dystonia that improves after levodopa may occur in both dopa-responsive dystonia (DRD) and juvenile parkinsonism (JP), clinically similar conditions [neurology.org]

What therapies are in development for dystonia? Where can I learn more about dystonia? What causes dystonia? [michaeljfox.org]

CHCHD2 MAPT Alternative tests to consider In some cases, parkinsonism may have overlapping features with dystonia, or occur secondary to dystonia. [invitae.com]

Aicardi-Goutières Syndrome Type 2

[…] may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint and muscle stiffness (spasticity), involuntary muscle twisting and contractions (dystonia [rarediseases.org]

However, ADAR mutation, a recently discovered AGS gene, can cause late-onset acute or subacute onset of severe dystonia and features of bilateral striatal necrosis on neuroimaging [annalsofian.org]

[…] life characterised by cerebrospinal fluid (CSF) lymphocytosis and calcifications in the basal ganglia.1 It manifests with irritability, psychomotor retardation, spasticity, dystonia [analesdepediatria.org]