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Hyperkinetic movements

MedGen UID:
854367
Concept ID:
C3887506
Disease or Syndrome
Synonym: Hyperkinesis
SNOMED CT: Hyperkinesia (44548000)
 
HPO: HP:0002487

Definition

Motor hyperactivity with excessive movement of muscles of the body as a whole. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hyperkinetic movements

Conditions with this feature

Hypervalinemia
MedGen UID:
120652
Concept ID:
C0268573
Disease or Syndrome
Valinemia is an inborn error of metabolism characterized clinically by vomiting, feeding difficulties, hypotonia, and developmental delay, and biochemically by high concentrations of valine in serum and urine (Wada, 1965).
Succinate-semialdehyde dehydrogenase deficiency
MedGen UID:
124340
Concept ID:
C0268631
Disease or Syndrome
Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by infantile-onset hypotonia, developmental delay, cognitive impairment, expressive language deficit, and mild ataxia. Epilepsy is present in about half of affected individuals and is more common in adults. Hyperkinetic behavior, aggression, self-injurious behaviors, hallucinations, and sleep disturbances have been reported in nearly half of all affected individuals, more commonly in those who are older. Basal ganglia signs including choreoathetosis, dystonia, and myoclonus have been reported in a few individuals with earlier-onset, more severe disease. Involvement beyond the central nervous system has not been described. Individuals with SSADH deficiency typically have 4-hydroxybutyric aciduria present on urine organic acid analysis. Head MRI reveals T2 hyperintensities in multiple regions, involving the globus pallidi, cerebellar dentate nuclei, subthalamic nuclei, subcortical white matter, and brain stem, as well as cerebral and sometimes cerebellar atrophy. EEG findings include background slowing and spike discharges that are usually generalized.
X-linked intellectual disability-short stature-overweight syndrome
MedGen UID:
901885
Concept ID:
C0796218
Disease or Syndrome
Kumar-type X-linked syndromic intellectual developmental disorder (MRXSK) is an X-linked recessive disorder that shows phenotypic variability and multisystem involvement apparent from birth or early infancy. Most affected individuals are male, although 1 severely affected girl with a de novo THOC2 mutation has been reported. At the severe end of the spectrum, affected individuals have hypotonia, neonatal difficulties, failure to thrive with poor overall growth, feeding difficulties, respiratory insufficiency, visual impairment, profoundly impaired intellectual development with poor or absent speech, and motor abnormalities, such as inability to walk and hyperkinetic movements. Less severely affected individuals have mildly to moderately impaired intellectual development and speech delay. Additional features include behavioral abnormalities, hearing or visual defects, seizures, dysmorphic facial features, and brain imaging abnormalities (Kumar et al., 2015; Kumar et al., 2018; Kumar et al., 2020).
Methylcobalamin deficiency type cblE
MedGen UID:
344640
Concept ID:
C1856057
Disease or Syndrome
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.
Combined PSAP deficiency
MedGen UID:
382151
Concept ID:
C2673635
Disease or Syndrome
Combined saposin deficiency (PSAPD), a deficiency of prosaposin and saposins A, B, C, and D, is a fatal infantile storage disorder with hepatosplenomegaly and severe neurologic disease (summary by Hulkova et al., 2001).
Christianson syndrome
MedGen UID:
394455
Concept ID:
C2678194
Disease or Syndrome
Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
MedGen UID:
413170
Concept ID:
C2749864
Disease or Syndrome
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other less frequent features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria.
Developmental and epileptic encephalopathy, 11
MedGen UID:
462337
Concept ID:
C3150987
Disease or Syndrome
Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by Ogiwara et al., 2009; Howell et al., 2015; Wolff et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Intellectual disability, autosomal dominant 8
MedGen UID:
481912
Concept ID:
C3280282
Disease or Syndrome
GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD have been reported.
Branched-chain keto acid dehydrogenase kinase deficiency
MedGen UID:
766992
Concept ID:
C3554078
Disease or Syndrome
Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).
Hypomyelinating leukodystrophy 10
MedGen UID:
904191
Concept ID:
C4225332
Disease or Syndrome
Hypomyelinating leukodystrophy-10 (HLD10) is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging (summary by Nakayama et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Optic atrophy 11
MedGen UID:
934595
Concept ID:
C4310628
Disease or Syndrome
Optic atrophy-11 (OPA11) is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500).
Developmental and epileptic encephalopathy, 37
MedGen UID:
934737
Concept ID:
C4310770
Disease or Syndrome
Developmental and epileptic encephalopathy-37 (DEE37) is an autosomal recessive epileptic-dyskinetic neurologic disorder characterized by the onset of intractable seizures or abnormal movements in the first months or years of life. Patients typically have normal or only mildly delayed development in early infancy, but then show developmental regression and stagnation after the onset of seizures, which can occur between about 6 months to 2 years of age. In addition to epileptic encephalopathy, affected individuals also manifest a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. There is severely impaired intellectual development and function, loss of verbal skills with absent speech, and impaired volitional movements (summary by Madeo et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with involuntary movements
MedGen UID:
1374697
Concept ID:
C4479569
Disease or Syndrome
NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).
Autosomal recessive limb-girdle muscular dystrophy type R18
MedGen UID:
1385598
Concept ID:
C4517996
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Intellectual disability, autosomal dominant 54
MedGen UID:
1614787
Concept ID:
C4540484
Mental or Behavioral Dysfunction
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
MedGen UID:
1648431
Concept ID:
C4748715
Disease or Syndrome
Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018).
Developmental and epileptic encephalopathy, 69
MedGen UID:
1648381
Concept ID:
C4748988
Disease or Syndrome
Developmental and epileptic encephalopathy-69 (DEE69) is an autosomal dominant severe neurodevelopmental encephalopathic disorder characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development often associated with macrocephaly, hyperkinetic movements, and contractures. The disorder can sometimes result in early death. Some patients may have a favorable seizure response to topiramate medication (summary by Helbig et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Developmental and epileptic encephalopathy, 72
MedGen UID:
1681879
Concept ID:
C5193063
Disease or Syndrome
Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
MedGen UID:
1681181
Concept ID:
C5193088
Disease or Syndrome
Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019).
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
MedGen UID:
1678038
Concept ID:
C5193128
Disease or Syndrome
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019).
Developmental and epileptic encephalopathy 89
MedGen UID:
1761611
Concept ID:
C5436853
Disease or Syndrome
Developmental and epileptic encephalopathy-89 (DEE89) is a severe autosomal recessive disorder characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. EEG shows suppression-burst pattern or hypsarrhythmia, consistent with DEE or a clinical diagnosis of West syndrome. More variable features include joint contractures with foot deformities, dysmorphic facial features with cleft palate, and omphalocele. Affected individuals have poor motor skills, poor eye contact, and lack of language development; some die in infancy or early childhood. Brain imaging may be normal or show nonspecific abnormalities (summary by Chatron et al., 2020).
Developmental and epileptic encephalopathy 6B
MedGen UID:
1779648
Concept ID:
C5543353
Disease or Syndrome
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.
Infantile-onset generalized dyskinesia with orofacial involvement
MedGen UID:
1798887
Concept ID:
C5567464
Disease or Syndrome
Infantile-onset limb and orofacial dyskinesia is an autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking; the severity is variable (summary by Diggle et al., 2016).
3-methylglutaconic aciduria, type VIIB
MedGen UID:
1810214
Concept ID:
C5676893
Disease or Syndrome
CLPB (caseinolytic peptidase B) deficiency is characterized by neurologic involvement and neutropenia, which can range from severe to mild. In severe CLPB deficiency, death usually occurs at a few months of age due to significant neonatal neurologic involvement (hyperekplexia or absence of voluntary movements, hypotonia or hypertonia, swallowing problems, respiratory insufficiency, and epilepsy) and severe neutropenia associated with life-threatening infections. Individuals with moderate CLPB deficiency present with neurologic abnormalities in infancy including hypotonia and feeding problems, and develop spasticity, a progressive movement disorder (ataxia, dystonia, and/or dyskinesia), epilepsy, and intellectual disability. Neutropenia is variable, but not life threatening. In those with mild CLPB deficiency there is no neurologic involvement, intellect is normal, neutropenia is mild and intermittent, and life expectancy is normal.
Parkinsonism-dystonia 3, childhood-onset
MedGen UID:
1808365
Concept ID:
C5676913
Disease or Syndrome
Childhood-onset parkinsonism-dystonia-3 (PKDYS3) is an autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Affected individuals present with progressive movement abnormalities, including parkinsonism with tremor, dystonia, myoclonus ataxia, and hyperkinetic movements such as ballismus. The parkinsonism features may be responsive to treatment with levodopa, although many patients develop levodopa-induced dyskinesia. Some patients may have mild cognitive impairment or psychiatric disturbances (summary by Burke et al., 2018 and Skorvanek et al., 2022). For a discussion of genetic heterogeneity of PKDYS, see 613135.
Classic dopamine transporter deficiency syndrome
MedGen UID:
1814585
Concept ID:
C5700336
Disease or Syndrome
SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic DTDS. Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical DTDS. Normal psychomotor development in infancy and early childhood is followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term outcome of this form is currently unknown.
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
MedGen UID:
1824013
Concept ID:
C5774240
Disease or Syndrome
Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM) is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. Other features include visual impairment due to optic atrophy, sensorineural hearing loss, and neuromuscular abnormalities. The severity is highly variable. The disorder is progressive; about half of patients show developmental regression with loss of previous skills. Features suggestive of a mitochondrial disorder include cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate. Some patients develop seizures, some have dysmorphic facial features, and some have nonspecific abnormalities on brain imaging. Death in childhood may occur (Kaiyrzhanov et al., 2022).
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
MedGen UID:
1848439
Concept ID:
C5882675
Disease or Syndrome
Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023).
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MedGen UID:
988270
Concept ID:
CN305333
Disease or Syndrome
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
Congenital disorder of deglycosylation 1
MedGen UID:
989503
Concept ID:
CN306977
Disease or Syndrome
Individuals with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a clinical tetrad of developmental delay / intellectual disability in the mild to profound range, hypo- or alacrima, elevated liver transaminases that may spontaneously resolve in childhood, and a complex hyperkinetic movement disorder that can include choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. About half of affected individuals will develop clinical seizures. Other findings may include obstructive and/or central sleep apnea, oral motor defects that affect feeding ability, auditory neuropathy, constipation, scoliosis, and peripheral neuropathy.

Professional guidelines

PubMed

Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Dy-Hollins M, Carr S, Scharf J, Sharma N, Stern TA
Prim Care Companion CNS Disord 2021 Apr 1;23(2) doi: 10.4088/PCC.20f02840. PMID: 34000162
Ferrini A, Steel D, Barwick K, Kurian MA
Mov Disord 2021 May;36(5):1104-1114. Epub 2021 May 2 doi: 10.1002/mds.28495. PMID: 33934385

Recent clinical studies

Etiology

Csehi R, Molnar V, Fedor M, Zsumbera V, Palasti A, Acsai K, Grosz Z, Nemeth G, Molnar MJ
Orphanet J Rare Dis 2023 Dec 1;18(1):375. doi: 10.1186/s13023-023-02930-z. PMID: 38041194Free PMC Article
Datta AK, Ghosh PC, Bera M, Mukherjee A, Chaudhuri J, Pandit A
Eur J Paediatr Neurol 2022 Mar;37:40-45. Epub 2022 Jan 13 doi: 10.1016/j.ejpn.2022.01.003. PMID: 35051735
Reilmann R
Int Rev Neurobiol 2019;149:299-306. Epub 2019 Nov 21 doi: 10.1016/bs.irn.2019.10.006. PMID: 31779817
Jankovic J
Expert Opin Pharmacother 2016 Dec;17(18):2461-2470. doi: 10.1080/14656566.2016.1258063. PMID: 27819145
Perlman SL
Handb Clin Neurol 2011;100:113-40. doi: 10.1016/B978-0-444-52014-2.00006-9. PMID: 21496573

Diagnosis

Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A
Mov Disord Clin Pract 2024 Jan;11(1):87-93. Epub 2023 Dec 12 doi: 10.1002/mdc3.13927. PMID: 38291845Free PMC Article
DeArias AL, Bamford NS
Pediatr Neurol 2024 Mar;152:16-19. Epub 2023 Dec 19 doi: 10.1016/j.pediatrneurol.2023.12.012. PMID: 38176223
Mumoli L, Magro G, Bosco D
Neurol Sci 2024 Feb;45(2):825-826. Epub 2023 Oct 13 doi: 10.1007/s10072-023-07112-0. PMID: 37828390
Reilmann R
Int Rev Neurobiol 2019;149:299-306. Epub 2019 Nov 21 doi: 10.1016/bs.irn.2019.10.006. PMID: 31779817
Weiss HD
Semin Neurol 2016 Aug;36(4):335-41. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585098. PMID: 27643901

Therapy

DeArias AL, Bamford NS
Pediatr Neurol 2024 Mar;152:16-19. Epub 2023 Dec 19 doi: 10.1016/j.pediatrneurol.2023.12.012. PMID: 38176223
Csehi R, Molnar V, Fedor M, Zsumbera V, Palasti A, Acsai K, Grosz Z, Nemeth G, Molnar MJ
Orphanet J Rare Dis 2023 Dec 1;18(1):375. doi: 10.1186/s13023-023-02930-z. PMID: 38041194Free PMC Article
Stimming EF, Bega D
Continuum (Minneap Minn) 2022 Oct 1;28(5):1379-1408. doi: 10.1212/CON.0000000000001169. PMID: 36222771
Bashir HH, Jankovic J
Neurol Clin 2020 May;38(2):379-396. Epub 2020 Feb 28 doi: 10.1016/j.ncl.2020.01.004. PMID: 32279716
Jankovic J
Expert Opin Pharmacother 2016 Dec;17(18):2461-2470. doi: 10.1080/14656566.2016.1258063. PMID: 27819145

Prognosis

Csehi R, Molnar V, Fedor M, Zsumbera V, Palasti A, Acsai K, Grosz Z, Nemeth G, Molnar MJ
Orphanet J Rare Dis 2023 Dec 1;18(1):375. doi: 10.1186/s13023-023-02930-z. PMID: 38041194Free PMC Article
Stimming EF, Bega D
Continuum (Minneap Minn) 2022 Oct 1;28(5):1379-1408. doi: 10.1212/CON.0000000000001169. PMID: 36222771
Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG
Ann Neurol 2016 Jul;80(1):59-70. Epub 2016 Jun 1 doi: 10.1002/ana.24678. PMID: 27130255Free PMC Article
Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP
Eur J Hum Genet 2002 Nov;10(11):773-81. doi: 10.1038/sj.ejhg.5200866. PMID: 12404112
Casey DE
West J Med 1990 Nov;153(5):535-41. PMID: 1979705Free PMC Article

Clinical prediction guides

Csehi R, Molnar V, Fedor M, Zsumbera V, Palasti A, Acsai K, Grosz Z, Nemeth G, Molnar MJ
Orphanet J Rare Dis 2023 Dec 1;18(1):375. doi: 10.1186/s13023-023-02930-z. PMID: 38041194Free PMC Article
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A
Brain 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. PMID: 36729635
Pérez-Dueñas B, Gorman K, Marcé-Grau A, Ortigoza-Escobar JD, Macaya A, Danti FR, Barwick K, Papandreou A, Ng J, Meyer E, Mohammad SS, Smith M, Muntoni F, Munot P, Uusimaa J, Vieira P, Sheridan E, Guerrini R, Cobben J, Yilmaz S, De Grandis E, Dale RC, Pons R, Peall KJ, Leuzzi V, Kurian MA
Mov Disord 2022 Nov;37(11):2197-2209. Epub 2022 Aug 25 doi: 10.1002/mds.29182. PMID: 36054588Free PMC Article
Reilmann R
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