Spastic Dystonia: Causes & Reasons

Possible Causes for Spastic Dystonia

Dystonia. [www-personal.umd.umich.edu]

[…] dysfunction. 24 6 61 Ellouze S...Corral-Debrinski M 18771762 2008 4 A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 6 24 61 [malacards.org]

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. [mitomap.org]

GLUT1 Deficiency Syndrome

These include paroxysmal choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. [ghr.nlm.nih.gov]

Adult-Onset Cervical Dystonia Type DYT23

Oppenheim and Vogats 1911 Abnormality of any attitude owing to sustained muscle contraction Danny Brown Flexion dystonia of Parkinsonism Spastic dystonia of hemiplegia, paraplegia [vdocuments.net]

Infantile epileptic-dyskinetic encephalopathy Isolated dystonia Myoclonus-dystonia syndrome Oromandibular dystonia Paroxysmal dyskinesia Paroxysmal dystonia Paroxysmal dystonic [se-atlas.de]

[…] dyskinesia DYT9 601042 SLC2A1 1p35-p31.3 Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18) DYT10 128200 PRRT2 16p11.2-q12.1 Paroxysmal kinesigenic [vdocuments.net]

Mitochondrial Membrane Protein-Associated Neurodegeneration

Spasticity, more prominent than dystonia, optic atrophy, motor neuropathy, and a slowly progressive course with cognitive decline help to differentiate MPAN from the other [malacards.org]

The end stages of MPAN are characterized by severe dementia, spasticity, dystonia, and parkinsonism. [ncbi.nlm.nih.gov]

Conclusions MPAN is characterized by a juvenile‐onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment. [ingentaconnect.com]

Neurodegeneration with Brain Iron Accumulation

is a rare NBIA disorder that involves muscle spasticity and dystonia, eye findings early in the disease, and progressive intellectual impairment and seizures later in the [nbiacure.org]

CONCLUSIONS: MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment [ncbi.nlm.nih.gov]

Dystonia and spasticity can be debilitating. [ncbi.nlm.nih.gov]

COASY Protein-Associated Neurodegeneration

Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. {ECO:0000269 PubMed:24360804}. [genecards.org]

Common symptoms include: Spastic-dystonic paraparesis Lower limbs spasticity (stiff or rigid muscles), dystonia (involuntary muscle contraction and spasms), and weakness Develops [nbiacure.org]

Long-term surveillance for CoPAN can include: Medication for spasticity, dystonia, and/or parkinsonism Monitoring of individuals receiving dopaminergic drugs for parkinsonism [nbiacure.org]

Autosomal Recessive Spastic Paraplegia Type 35

With disease progression, dystonia and spasticity compromise the ability to ambulate, leading to wheelchair dependence. Life expectancy is variable. [ncbi.nlm.nih.gov]

Acronym SPG35 Synonyms FAHN Fatty acid hydroxylase-associated neurodegeneration Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia Keywords Any [uniprot.org]

Mutations in FA2H are associated with leukodystrophy with spastic paraparesis and dystonia. [antibodies-online.com]

Beta-Propeller Protein-Associated Neurodegeneration

Therapies to manage dystonia can include: Intramuscular botulinum toxin Botox is injected in spastic, dystonic muscles to help them relax for a period of time Oral Artane [nbiacure.org]

Neurologic examination was completely unremarkable with no clear dysarthria, spasticity, dystonia, or parkinsonian features. [pediatrics.aappublications.org]

Even so, it is possible that Alexis continues to develop greater rigidity, spasticity and dystonia. [gofundme.com]

Familial Infantile Bilateral Striatal Necrosis

Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills [rarediseases.info.nih.gov]

The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation [genome.jp]

[…] progressing to spastic quadriparesis. [rarediseases.info.nih.gov]

Hallervorden-Spatz Syndrome

When examined at age 7 1/2 years each had spastic quadriparesis and dystonia. Neither had ever spoken a complete sentence. [ncbi.nlm.nih.gov]

We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations [ncbi.nlm.nih.gov]

Neurologic signs include parkinsonism, abnormal postures and movements (dystonia), ataxia, muscle rigidity, spasticity, and cognitive impairment. [secure.ssa.gov]

Movement Disorder

[…] and spasticity. [ncbi.nlm.nih.gov]

Huntington’s disease Multiple systems atrophy (MSA, Shy-Drager) Progressive supranuclear palsy (PSP; parkinsonian disorder) Restless leg syndrome (RLS) Spasmodic dysphonia Spasticity [ohsu.edu]

Areas of particular expertise include Parkinson's disease, dystonia, spasticity, gait disorders and tremor. [mc.vanderbilt.edu]

Hemiballismus

This report highlights the emerging role of ITB in managing movement disorders other than dystonia spastic hypertonia and dystonia. [ncbi.nlm.nih.gov]

Intrathecal baclofen (ITB) therapy is widely used in the management of spastic hypertonia and dystonia resulting from a multitude of conditions that present with upper motor [ncbi.nlm.nih.gov]

Hereditary Optic Atrophy

dystonia. [genome.jp]

Dystonia. [www-personal.umd.umich.edu]

Other patients have minor neurologic abnormalities, such as a postural tremor, loss of ankle reflexes, dystonia, spasticity, or a multiple sclerosis–like illness. [merckmanuals.com]

Autosomal Recessive Spinocerebellar Ataxia Type 17

It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. [orpha.net]

The 31 chapters in this volume cover a wide range of inherited conditions including forms of dystonia, Parkinson disease, spastic paraplegias, mitochondrial diseases, myopathies [books.google.com]

CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY DYSTONIA 9; DYT9 [slideshare.net]

Neuroferritinopathy

Neurologic signs include parkinsonism, abnormal postures and movements (dystonia), ataxia, muscle rigidity, spasticity, and cognitive impairment. [secure.ssa.gov]

The clinical phenotype is characterized by childhood-onset spastic paraplegia, ataxia and dystonia. [scielo.br]

Autosomal Dominant Spastic Ataxia Type 1

SCA3 type 2 (MJD Type 2, see this term) presents in middle adulthood with ataxia, spasticity, and dystonia. [orpha.net]

[…] ataxias Extrapyramidal Akinesia/rigidity/dystonia: SCA 3, 9, 17, 21 ; 12 (Akinesia) Chorea Early/prominent: DRPLA, 17, 27 ; Rarely SCA 2 Dyskinesia: SCA 27 Myoclonus Common [neuromuscular.wustl.edu]

CHOREOATHETOSIS/SPASTICITY, EPISODIC; CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY DYSTONIA 9; DYT9 [slideshare.net]

Cerebral Palsy with Spastic Diplegia

It is not uncommon to have both spasticity and dystonia with CP, and it is often difficult to tell them apart because they both result in too much muscle tone. [childrenshospital.org]

dystonia and/or athetoid movements. [physio-pedia.com]

A small catheter is placed into the thecal space (subarachnoid spinal canal), with the tip placed in the high cervical area to treat dystonia or spastic quadriplegia, or in [encyclopedia2.thefreedictionary.com]

Lesch-Nyhan Syndrome

Hypotonia and developmental delay occur subsequently, followed by prominent pyramidal and extrapyramidal signs--including spasticity, dystonia, and hyperreflexia. [contemporarypediatrics.com]

In the classic disease, the activity of the enzyme is completely deficient; the patient has mental retardation, spasticity, dystonia, and self-injurious behavior, as well [ncbi.nlm.nih.gov]

Patients with this syndrome are characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. [ncbi.nlm.nih.gov]

Isolated Succinate-CoQ Reductase Deficiency

Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy [genecards.org]

Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996 ).See also cerebroretinal microangiopathy with calcifications and cysts ( CRMCC ), an autosomal [mendelian.co]

spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy. [orpha.net]

[…] syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity [mendelian.co]

Diomedi-Bernardi-Placidi Syndrome

Hypotonia, spasticity, and dyskinesias such as myoclonia, dystonia and ataxia are variably present. [disorders.eyes.arizona.edu]

Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. [pediatrics.aappublications.org]

[…] paraplegia Spinocerebellar ataxias Vitamin deﬁ ciency (B12 and E) Lathyrism Levodopa-responsive dystonia Infection (syphilis, human T-cell leukaemia virus 1, HIV) Copper [slideshare.net]

X-Linked Parkinsonism with Spasticity

Therapies to manage dystonia can include: Intramuscular botulinum toxin Botox is injected in spastic, dystonic muscles to help them relax for a period of time Oral Artane [nbiacure.org]

12 ATP13A2 Parkinson disease 9; Spastic paraplegia 78, autosomal recessive ATP6AP2 Parkinsonism with spasticity, X-linked; Mental retardation, X-linked, syndromic, Hedera [asperbio.com]

[…] precipitated by stress, fatigue, alcohol, and chocolate DYT-9 (CSE) 1p34-p22 Paroxysmal Choreoathetosis with Spasticity Autosomal Dominant Attacks of dystonia, episodic ataxia [cmdg.org]

Machado-Joseph Disease

It is characterized by spastic dystonia, ataxia, athetosis, ophthalmoplegia, and exophthalmos. Mental and intellectual abilities are most frequently normal. [symptoma.com]

SCA3 type 2 (MJD Type 2, see this term) presents in middle adulthood with ataxia, spasticity, and dystonia. [orpha.net]

Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia, dystonia and peripheral neuropathy. [ncbi.nlm.nih.gov]

MEGDEL Syndrome

Video 1 MEDGEL Syndrome in Adulthood Revealed by Generalized Dystonia and Spasticity. 2010: cervical dystonia, mild lower limb spasticity, dysarthria. 2012: generalized dystonia [tremorjournal.org]

dystonia, deafness, and transient liver problems, which typically occur in the first year of life. [x-mol.com]

He presented with generalized dystonia and progressive lower limb spasticity triggered by fever. The mitochondrial disease was identified by SERAC1 mutation [7]. [karger.com]

Pontocerebellar Hypoplasia Type 8

In persons with prolonged survival, spasticity, dystonia, and seizures become evident. [ncbi.nlm.nih.gov]

(spasticity). [medlineplus.gov]

In children with prolonged survival, spasticity, dystonia, and seizures become evident. Respiratory insufficiency and swallowing difficulties are common. [ncbi.nlm.nih.gov]

MDA5 Deficiency

Patients with Aicardi-Goutières syndrome (AGS), the first described of the monogenic interferonopathies, exhibit dystonia, spasticity, developmental delay, intra-cranial calcifications [theses.fr]

Early-Onset Progressive Encephalopathy with Brain Atrophy and Spasticity

[…] and/or myoclonus and spasticity. [orpha.net]

severe global development delay often with regression, epilepsy, congenital or postnatal microcephaly, hearing loss, dysphagia or reflux, scoliosis, truncal hypotonia, dystonia [orpha.net]

Aicardi-Goutières Syndrome Type 6

During the first year of life, spasticity, dystonia, and microcephaly were reported in these children. [medlink.com]

dystonia, epileptic seizures, recurrent episodes of aseptic fever and microcephaly. [analesdepediatria.org]

The child developed a spastic tetraparesis, generalized dystonia and dysarthria. [ejpn-journal.com]

Aicardi-Goutières Syndrome Type 1

dystonia, epileptic seizures, recurrent episodes of aseptic fever and microcephaly. [analesdepediatria.org]

During the first year of life, spasticity, dystonia, and microcephaly were reported in these children. [medlink.com]

Clinically, the patients showed bilateral spasticity, dystonia, ocular jerks, and acquired progressive microcephaly with a rapid course toward profound deterioration and death [medlink.com]

Aicardi-Goutières Syndrome Type 3

dystonia, epileptic seizures, recurrent episodes of aseptic fever and microcephaly. [analesdepediatria.org]

Over time, severe neurological dysfunction emerges as progressive microcephaly, spasticity, dystonia, and cognitive impairment. [onlinelibrary.wiley.com]