U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tetraparesis

MedGen UID:
78731
Concept ID:
C0270790
Finding; Sign or Symptom
Synonym: Quadriparesis
SNOMED CT: Quadriparesis (91327001); Tetraparesis (91327001); Muscle weakness of all four limbs (91327001)
 
HPO: HP:0002273

Definition

Weakness of all four limbs. [from HPO]

Conditions with this feature

Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Purine-nucleoside phosphorylase deficiency
MedGen UID:
75653
Concept ID:
C0268125
Disease or Syndrome
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992).
Oculodentodigital dysplasia
MedGen UID:
167236
Concept ID:
C0812437
Congenital Abnormality
Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). Genetic Heterogeneity of Oculodentodigital Syndrome An autosomal recessive form of ODDD (257850) is also caused by mutation in the GJA1 gene, but the majority of cases are autosomal dominant.
Spondyloepiphyseal dysplasia, Reardon type
MedGen UID:
322238
Concept ID:
C1833603
Disease or Syndrome
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Periventricular heterotopia with microcephaly, autosomal recessive
MedGen UID:
334110
Concept ID:
C1842563
Disease or Syndrome
Biotin-responsive basal ganglia disease
MedGen UID:
375289
Concept ID:
C1843807
Disease or Syndrome
Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.
Spondyloepimetaphyseal dysplasia, Bieganski type
MedGen UID:
335350
Concept ID:
C1846148
Disease or Syndrome
X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).
Adult polyglucosan body disease
MedGen UID:
342338
Concept ID:
C1849722
Disease or Syndrome
Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bladder, gait difficulties (i.e., spasticity and weakness) from mixed upper and lower motor neuron involvement, sensory loss predominantly in the distal lower extremities, autonomic dysfunction (associated with orthostatic hypotension and constipation), and mild cognitive difficulties (often executive dysfunction). Some affected individuals without classic GBE1-APBD have atypical phenotypes including Alzheimer disease-like dementia and axonal neuropathy, stroke-like episodes, and diaphragmatic failure; others may have a history of infantile liver disease.
Sclerosteosis 2
MedGen UID:
482032
Concept ID:
C3280402
Disease or Syndrome
Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (269500).
Complex cortical dysplasia with other brain malformations 7
MedGen UID:
765150
Concept ID:
C3552236
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-7 is an autosomal dominant, clinically heterogeneous disorder showing a wide spectrum of abnormalities of cortical brain development. The most severely affected patients are fetuses with microlissencephaly, absence of the cortical plate, agenesis of the corpus callosum, and severely hypoplastic brainstem and cerebellum. Other patients have lissencephaly, polymicrogyria, cortical dysplasia, or neuronal heterotopia. Those with less severe malformations can survive, but usually have some degree of neurologic impairment, such as mental retardation, seizures, and movement abnormalities (summary by Chang et al., 2006; Fallet-Bianco et al., 2014). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
MedGen UID:
815995
Concept ID:
C3809665
Disease or Syndrome
Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
MedGen UID:
854771
Concept ID:
C3888102
Disease or Syndrome
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis.
Aicardi-Goutieres syndrome 7
MedGen UID:
854829
Concept ID:
C3888244
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Severe neurodegenerative syndrome with lipodystrophy
MedGen UID:
863137
Concept ID:
C4014700
Disease or Syndrome
The spectrum of BSCL2-related neurologic disorders includes Silver syndrome and variants of Charcot-Marie-Tooth neuropathy type 2, distal hereditary motor neuropathy (dHMN) type V, and spastic paraplegia 17. Features of these disorders include onset of symptoms ranging from the first to the seventh decade, slow disease progression, upper motor neuron involvement (gait disturbance with pyramidal signs ranging from mild to severe spasticity with hyperreflexia in the lower limbs and variable extensor plantar responses), lower motor neuron involvement (amyotrophy of the peroneal muscles and small muscles of the hand), and pes cavus and other foot deformities. Disease severity is variable among and within families.
Paget disease of bone 2, early-onset
MedGen UID:
899166
Concept ID:
C4085251
Disease or Syndrome
Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). For a discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Autosomal recessive limb-girdle muscular dystrophy type 2W
MedGen UID:
897675
Concept ID:
C4225192
Disease or Syndrome
Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by Warman Chardon et al., 2015).
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
MedGen UID:
934642
Concept ID:
C4310675
Disease or Syndrome
Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34.
Developmental and epileptic encephalopathy, 41
MedGen UID:
934684
Concept ID:
C4310717
Disease or Syndrome
Developmental and epileptic encephalopathy-41 (DEE41) is a neurologic disorder characterized by the onset of seizures in the first days or weeks of life. Affected infants show severely impaired psychomotor development with hypotonia, spasticity, lack of speech, poor visual fixation, feeding difficulties sometimes necessitating tube feeding, poor overall growth and microcephaly, and contractures. Brain imaging may show delayed myelination, thin corpus callosum, and cerebral atrophy (summary by the EPI4K Consortium, 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
MedGen UID:
1641069
Concept ID:
C4551951
Disease or Syndrome
Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.
Brain small vessel disease 1 with or without ocular anomalies
MedGen UID:
1647320
Concept ID:
C4551998
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
Amyotrophic lateral sclerosis, susceptibility to, 24
MedGen UID:
1632999
Concept ID:
C4693523
Finding
Amyotrophic lateral sclerosis-24 (ALS24) is a fatal neurodegenerative disease characterized by adult-onset loss of motor neurons (Brenner et al., 2016).
Mitochondrial complex 1 deficiency, nuclear type 8
MedGen UID:
1648411
Concept ID:
C4748766
Disease or Syndrome
Neurodegeneration, childhood-onset, with cerebellar atrophy
MedGen UID:
1648286
Concept ID:
C4748934
Disease or Syndrome
Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. Patients present in the first year of life with global developmental delay, impaired intellectual development, poor or absent speech, and motor abnormalities. Brain imaging shows cerebellar atrophy. The severity is variable, but death in childhood may occur (Shashi et al., 2018).
Developmental and epileptic encephalopathy, 83
MedGen UID:
1684784
Concept ID:
C5231487
Disease or Syndrome
Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by Perenthaler et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
MedGen UID:
1759760
Concept ID:
C5436279
Disease or Syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; 605078) or p62 (SQSTM1; 601530) aggregates. Patients with a D395G mutation (601023.0014) have been shown to develop pathologic tau (MAPT; 157140) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by Johnson et al., 2010; Wong et al., 2018; Al-Obeidi et al., 2018; Darwich et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).
Mitochondrial DNA depletion syndrome 19
MedGen UID:
1770258
Concept ID:
C5436514
Disease or Syndrome
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).
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis
MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).
Leukodystrophy, hypomyelinating, 21
MedGen UID:
1778269
Concept ID:
C5543334
Disease or Syndrome
Hypomyelinating leukodystrophy-21 (HLD21) is an autosomal recessive neurodegenerative disorder characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Affected individuals show cerebellar and pyramidal signs, including nystagmus, ataxia, dystonia, and spasticity, resulting in the loss of ambulation. Other more variable features include feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures. Brain imaging shows diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum. The disorder is progressive and may lead to premature death (summary by Dorboz et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Combined oxidative phosphorylation defect type 27
MedGen UID:
1799031
Concept ID:
C5567608
Disease or Syndrome
Combined oxidative phosphorylation deficiency-27 (COXPD27) is an autosomal recessive multisystem disorder characterized mainly by neurologic features, including delayed development, seizures, abnormal movements, and neurologic regression. Age at onset, ranging from infancy to late childhood, and severity are variable. Other features include hypotonia, myoclonus, brain imaging abnormalities, and evidence of mitochondrial dysfunction in skeletal muscle. Liver dysfunction has also been reported (summary by Samanta et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).

Professional guidelines

PubMed

Oliveira R, Ramalho Rocha F, Teodoro T, Oliveira Santos M
J Clin Neurosci 2021 May;87:116-124. Epub 2021 Mar 20 doi: 10.1016/j.jocn.2021.02.024. PMID: 33863518
Hillbom M, Saloheimo P, Fujioka S, Wszolek ZK, Juvela S, Leone MA
J Neurol Neurosurg Psychiatry 2014 Feb;85(2):168-73. Epub 2013 Aug 26 doi: 10.1136/jnnp-2013-305979. PMID: 23978380Free PMC Article
Hesse S, Mauritz KH
Curr Opin Neurol 1997 Dec;10(6):498-501. doi: 10.1097/00019052-199712000-00011. PMID: 9425564

Recent clinical studies

Etiology

Solazzi R, Nanni G, Esposito S, Estienne M, Freri E, Zibordi F, Canafoglia L, Castellotti B, Granata T
Pediatr Neurol 2023 Oct;147:24-27. Epub 2023 Jun 22 doi: 10.1016/j.pediatrneurol.2023.06.012. PMID: 37542971
Kleefeld F, Uruha A, Schänzer A, Nishimura A, Roos A, Schneider U, Goebel HH, Schuelke M, Hahn K, Preusse C, Stenzel W
Neurology 2022 Nov 15;99(20):e2212-e2222. Epub 2022 Oct 4 doi: 10.1212/WNL.0000000000201103. PMID: 36195449
Oliveira R, Ramalho Rocha F, Teodoro T, Oliveira Santos M
J Clin Neurosci 2021 May;87:116-124. Epub 2021 Mar 20 doi: 10.1016/j.jocn.2021.02.024. PMID: 33863518
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Hendarto SK, Hadinegoro SR
Acta Paediatr Jpn 1992 Jun;34(3):350-7. doi: 10.1111/j.1442-200x.1992.tb00971.x. PMID: 1509881

Diagnosis

Nelke C, Pawlitzki M, Kerkhoff R, Schroeter CB, Aktas O, Neuen-Jacob E, Polzin A, Meuth SG, Ruck T
Neurol Neuroimmunol Neuroinflamm 2024 Jan;11(1) Epub 2023 Oct 26 doi: 10.1212/NXI.0000000000200177. PMID: 37884388Free PMC Article
Gállego Pérez-Larraya J, Garcia-Moure M, Labiano S, Patiño-García A, Dobbs J, Gonzalez-Huarriz M, Zalacain M, Marrodan L, Martinez-Velez N, Puigdelloses M, Laspidea V, Astigarraga I, Lopez-Ibor B, Cruz O, Oscoz Lizarbe M, Hervas-Stubbs S, Alkorta-Aranburu G, Tamayo I, Tavira B, Hernandez-Alcoceba R, Jones C, Dharmadhikari G, Ruiz-Moreno C, Stunnenberg H, Hulleman E, van der Lugt J, Idoate MÁ, Diez-Valle R, Esparragosa Vázquez I, Villalba M, de Andrea C, Núñez-Córdoba JM, Ewald B, Robbins J, Fueyo J, Gomez-Manzano C, Lang FF, Tejada S, Alonso MM
N Engl J Med 2022 Jun 30;386(26):2471-2481. doi: 10.1056/NEJMoa2202028. PMID: 35767439
Oliveira R, Ramalho Rocha F, Teodoro T, Oliveira Santos M
J Clin Neurosci 2021 May;87:116-124. Epub 2021 Mar 20 doi: 10.1016/j.jocn.2021.02.024. PMID: 33863518
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415
Trebst C, Raab P, Voss EV, Rommer P, Abu-Mugheisib M, Zettl UK, Stangel M
Nat Rev Neurol 2011 Nov 1;7(12):688-98. doi: 10.1038/nrneurol.2011.176. PMID: 22045269

Therapy

Magy L, Frachet S
Expert Rev Neurother 2023 Jun;23(6):549-557. Epub 2023 May 9 doi: 10.1080/14737175.2023.2212163. PMID: 37151048
Kleefeld F, Uruha A, Schänzer A, Nishimura A, Roos A, Schneider U, Goebel HH, Schuelke M, Hahn K, Preusse C, Stenzel W
Neurology 2022 Nov 15;99(20):e2212-e2222. Epub 2022 Oct 4 doi: 10.1212/WNL.0000000000201103. PMID: 36195449
Gállego Pérez-Larraya J, Garcia-Moure M, Labiano S, Patiño-García A, Dobbs J, Gonzalez-Huarriz M, Zalacain M, Marrodan L, Martinez-Velez N, Puigdelloses M, Laspidea V, Astigarraga I, Lopez-Ibor B, Cruz O, Oscoz Lizarbe M, Hervas-Stubbs S, Alkorta-Aranburu G, Tamayo I, Tavira B, Hernandez-Alcoceba R, Jones C, Dharmadhikari G, Ruiz-Moreno C, Stunnenberg H, Hulleman E, van der Lugt J, Idoate MÁ, Diez-Valle R, Esparragosa Vázquez I, Villalba M, de Andrea C, Núñez-Córdoba JM, Ewald B, Robbins J, Fueyo J, Gomez-Manzano C, Lang FF, Tejada S, Alonso MM
N Engl J Med 2022 Jun 30;386(26):2471-2481. doi: 10.1056/NEJMoa2202028. PMID: 35767439
Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, Møller RS, Cooper E, Weckhuysen S
J Med Genet 2022 Jun;59(6):528-535. Epub 2021 Apr 2 doi: 10.1136/jmedgenet-2020-107449. PMID: 33811133
Hesse S, Mauritz KH
Curr Opin Neurol 1997 Dec;10(6):498-501. doi: 10.1097/00019052-199712000-00011. PMID: 9425564

Prognosis

Magy L, Frachet S
Expert Rev Neurother 2023 Jun;23(6):549-557. Epub 2023 May 9 doi: 10.1080/14737175.2023.2212163. PMID: 37151048
Gállego Pérez-Larraya J, Garcia-Moure M, Labiano S, Patiño-García A, Dobbs J, Gonzalez-Huarriz M, Zalacain M, Marrodan L, Martinez-Velez N, Puigdelloses M, Laspidea V, Astigarraga I, Lopez-Ibor B, Cruz O, Oscoz Lizarbe M, Hervas-Stubbs S, Alkorta-Aranburu G, Tamayo I, Tavira B, Hernandez-Alcoceba R, Jones C, Dharmadhikari G, Ruiz-Moreno C, Stunnenberg H, Hulleman E, van der Lugt J, Idoate MÁ, Diez-Valle R, Esparragosa Vázquez I, Villalba M, de Andrea C, Núñez-Córdoba JM, Ewald B, Robbins J, Fueyo J, Gomez-Manzano C, Lang FF, Tejada S, Alonso MM
N Engl J Med 2022 Jun 30;386(26):2471-2481. doi: 10.1056/NEJMoa2202028. PMID: 35767439
Boets S, Johannesen KM, Destree A, Manti F, Ramantani G, Lesca G, Vercueil L, Koenig MK, Striano P, Møller RS, Cooper E, Weckhuysen S
J Med Genet 2022 Jun;59(6):528-535. Epub 2021 Apr 2 doi: 10.1136/jmedgenet-2020-107449. PMID: 33811133
Bowley MP, Chad DA
Handb Clin Neurol 2019;161:241-268. doi: 10.1016/B978-0-444-64142-7.00052-7. PMID: 31307604
Nardocci N, Zorzi G
Handb Clin Neurol 2013;113:1919-24. doi: 10.1016/B978-0-444-59565-2.00062-9. PMID: 23622415

Clinical prediction guides

Mariano V, Kanellopoulos AK, Ricci C, Di Marino D, Borrie SC, Dupraz S, Bradke F, Achsel T, Legius E, Odent S, Billuart P, Bienvenu T, Bagni C
Biol Psychiatry 2024 Jan 15;95(2):161-174. Epub 2023 Sep 11 doi: 10.1016/j.biopsych.2023.08.027. PMID: 37704042
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S
Eur J Hum Genet 2022 Mar;30(3):298-306. Epub 2022 Jan 11 doi: 10.1038/s41431-021-01027-0. PMID: 35017693Free PMC Article
Ganelin-Cohen E, Konen O, Nevo Y, Cohen R, Halevy A, Shuper A, Aharoni S
J Child Neurol 2020 Dec;35(14):999-1003. Epub 2020 Aug 18 doi: 10.1177/0883073820947512. PMID: 32808576
Atwal PS, Midei M, Adams D, Fay A, Heerinckx F, Milner P
Orphanet J Rare Dis 2020 Jul 29;15(1):195. doi: 10.1186/s13023-020-01479-5. PMID: 32727524Free PMC Article
Hillbom M, Saloheimo P, Fujioka S, Wszolek ZK, Juvela S, Leone MA
J Neurol Neurosurg Psychiatry 2014 Feb;85(2):168-73. Epub 2013 Aug 26 doi: 10.1136/jnnp-2013-305979. PMID: 23978380Free PMC Article

Recent systematic reviews

Medeiros KS, Macêdo LTA, Souza WF, Sarmento AC, Costa APF, Gonçalves AK
Rev Assoc Med Bras (1992) 2021 Feb;67(2):318-334. doi: 10.1590/1806-9282.67.2.20200716. PMID: 34406260
Sanson G, Russo S, Iudicello A, Schiraldi F
J Emerg Med 2015 May;48(5):555-61.e3. Epub 2015 Mar 9 doi: 10.1016/j.jemermed.2014.12.048. PMID: 25766426

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...