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Spinal muscular atrophy(SMA)

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
Synonyms: SMA; Spinal muscle degeneration; Spinal muscle wasting; Spinal Muscular Atrophy (SMN1); Spinal Muscular Atrophy (SMN2)
SNOMED CT: SMA - Spinal muscular atrophy (5262007); Spinal muscular atrophy (5262007)
 
Genes (locations): GEMIN2 (14q21.1); SMNDC1 (10q25.2)
Related genes: SMN2, SMN1
HPO: HP:0007269

Disease characteristics

Excerpted from the GeneReview: Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications. [from GeneReviews]
Authors:
Thomas W Prior  |  Erika Finanger   view full author information

Conditions with this feature

Werdnig-Hoffmann disease
MedGen UID:
21913
Concept ID:
C0043116
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications.
Kugelberg-Welander disease
MedGen UID:
101816
Concept ID:
C0152109
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications.
Spinal muscular atrophy, type II
MedGen UID:
95975
Concept ID:
C0393538
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications.
Scapuloperoneal spinal muscular atrophy
MedGen UID:
148283
Concept ID:
C0751335
Disease or Syndrome
The TRPV4-associated disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within and between both groups is considerable. Bilateral progressive sensorineural hearing loss (SNHL) can occur in both. The three neuromuscular disorders (mildest to most severe): Charcot-Marie-Tooth disease type 2C (CMT2C). Scapuloperoneal spinal muscular atrophy (SPSMA). Congenital distal spinal muscular atrophy (CDSMA). The neuromuscular disorders are characterized by a progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Most severe: Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the TRPV4-associated disorders life span is normal; in the most severe it is shortened.
Jankovic Rivera syndrome
MedGen UID:
371854
Concept ID:
C1834569
Disease or Syndrome
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical pressure points; and a hoarse cry resulting from granulomas of the larynx and epiglottis. Life expectancy is usually less than two years. In the other less common types of FD, onset, severity, and primary manifestations vary. SMA-PME is characterized by early-childhood-onset progressive lower motor neuron disease manifest typically between ages three and seven years as proximal lower-extremity weakness, followed by progressive myoclonic and atonic seizures, tremulousness/tremor, and sensorineural hearing loss. Myoclonic epilepsy typically begins in late childhood after the onset of weakness and can include jerking of the upper limbs, action myoclonus, myoclonic status, and eyelid myoclonus. Other findings include generalized tremor, and cognitive decline. The time from disease onset to death from respiratory complications is usually five to 15 years.
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
MedGen UID:
322470
Concept ID:
C1834690
Disease or Syndrome
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., 2010). The most common form of SMA (see, e.g., SMA1, 253300) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (600354) on chromosome 5q. Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy See also SMALED2A (615290) and SMALED2B (618291), both of which are caused by mutation in the BICD2 gene (609797) on chromosome 9q22. SMALED2A and SMALED2B differ in age at onset and severity, with SMALED2B being more severe.
Spinal muscular atrophy type 4
MedGen UID:
325364
Concept ID:
C1838230
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications.
Distal spinal muscular atrophy, congenital nonprogressive
MedGen UID:
373984
Concept ID:
C1838492
Disease or Syndrome
The TRPV4-associated disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within and between both groups is considerable. Bilateral progressive sensorineural hearing loss (SNHL) can occur in both. The three neuromuscular disorders (mildest to most severe): Charcot-Marie-Tooth disease type 2C (CMT2C). Scapuloperoneal spinal muscular atrophy (SPSMA). Congenital distal spinal muscular atrophy (CDSMA). The neuromuscular disorders are characterized by a progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Most severe: Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the TRPV4-associated disorders life span is normal; in the most severe it is shortened.
Pontocerebellar hypoplasia type 1
MedGen UID:
335969
Concept ID:
C1843504
Congenital Abnormality
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.Researchers have described at least ten types of pontocerebellar hypoplasia. All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.The two major forms of pontocerebellar hypoplasia are designated as type 1 (PCH1) and type 2 (PCH2). In addition to the brain abnormalities described above, PCH1 causes problems with muscle movement resulting from a loss of specialized nerve cells called motor neurons in the spinal cord, similar to another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy.Common features of PCH2 include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of communication, including speech. Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures.The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) through type 10 (PCH10), appear to be rare and have each been reported in only a small number of individuals. Because the different types have overlapping features, and some are caused by mutations in the same genes, researchers have proposed that the types be considered as a spectrum instead of distinct conditions.
Spinal muscular atrophy, X-linked 2
MedGen UID:
337123
Concept ID:
C1844934
Disease or Syndrome
X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by congenital hypotonia and areflexia and evidence of degeneration and loss of anterior horn cells (i.e., lower motor neurons) in the spinal cord and brain stem. Often congenital contractures and/or fractures are present. Intellect is normal. Life span is shortened because of progressive ventilatory insufficiency resulting from chest muscle involvement.
Distal spinal muscular atrophy, X-linked 3
MedGen UID:
335168
Concept ID:
C1845359
Disease or Syndrome
Distal spinal muscular atrophy, autosomal recessive 3
MedGen UID:
337659
Concept ID:
C1846823
Disease or Syndrome
Distal spinal muscular atrophy (DSMA), also known as distal hereditary motor neuronopathy (dHMN or HMN), is characterized by distal muscle weakness and wasting without significant sensory involvement. For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960). Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3). Both have juvenile onset and differ only by less severe involvement in HMN3. However, Viollet et al. (2004) reported an extended Lebanese kindred in which both HMN III and HMN IV occurred, suggesting that the same gene was involved in both phenotypes (see Irobi et al., 2006).
Spinal muscular atrophy Ryukyuan type
MedGen UID:
376517
Concept ID:
C1849102
Disease or Syndrome
Spinal muscular atrophy with mental retardation
MedGen UID:
376518
Concept ID:
C1849109
Disease or Syndrome
Distal spinal muscular atrophy, autosomal recessive 2
MedGen UID:
344189
Concept ID:
C1854023
Disease or Syndrome
Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (182960).
Spinal muscular atrophy, distal, autosomal recessive, 1
MedGen UID:
388083
Concept ID:
C1858517
Disease or Syndrome
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood.Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. These are the muscles farther from the center of the body, such as muscles in the hands and feet. The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer.Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia).
Adult proximal spinal muscular atrophy, autosomal dominant
MedGen UID:
357133
Concept ID:
C1866777
Disease or Syndrome
Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600).
Spinal muscular atrophy, facioscapulohumeral type
MedGen UID:
357136
Concept ID:
C1866783
Disease or Syndrome
Distal spinal muscular atrophy, autosomal recessive 4
MedGen UID:
369682
Concept ID:
C1970211
Disease or Syndrome
Spinal muscular atrophy, distal, autosomal recessive, 5
MedGen UID:
766903
Concept ID:
C3553989
Disease or Syndrome
DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960).
Spinal muscular atrophy, jokela type
MedGen UID:
767312
Concept ID:
C3554398
Disease or Syndrome
CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic findings that can include: Mitochondrial myopathy (may also be early-onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons (UMNs) and lower motor neurons (LMNs). Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMAJ): weakness, cramps, and/or fasciculations; areflexia. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery of CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.
Distal Hereditary Motor Neuropathy, Type II
MedGen UID:
777992
Concept ID:
C3711384
Disease or Syndrome
Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant
MedGen UID:
815379
Concept ID:
C3809049
Disease or Syndrome
SMALED2A is an autosomal dominant form of spinal muscular atrophy characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life (summary by Oates et al., 2013). For discussion of genetic heterogeneity of lower extremity-predominant spinal muscular atrophy, see SMALED1 (158600).
Pontocerebellar hypoplasia, type 1c
MedGen UID:
863597
Concept ID:
C4015160
Disease or Syndrome
Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
Spinal muscular atrophy with congenital bone fractures 2
MedGen UID:
907910
Concept ID:
C4225176
Disease or Syndrome
Spinal muscular atrophy with congenital bone fractures 1
MedGen UID:
896011
Concept ID:
C4225177
Disease or Syndrome
Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.
Encephalopathy, progressive, with amyotrophy and optic atrophy
MedGen UID:
934634
Concept ID:
C4310667
Disease or Syndrome
PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 May;113(5):1194-6. doi: 10.1097/AOG.0b013e3181a6d03a. PMID: 19384151
Prior TW; Professional Practice and Guidelines Committee.
Genet Med 2008 Nov;10(11):840-2. doi: 10.1097/GIM.0b013e318188d069. PMID: 18941424Free PMC Article
Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A; Participants of the International Conference on SMA Standard of Care.
J Child Neurol 2007 Aug;22(8):1027-49. doi: 10.1177/0883073807305788. PMID: 17761659

Recent clinical studies

Etiology

Yoshioka M, Morisada N, Toyoshima D, Yoshimura H, Nishio H, Iijima K, Takeshima Y, Uehara T, Kosaki K
Brain Dev 2018 Apr;40(4):343-347. Epub 2017 Dec 19 doi: 10.1016/j.braindev.2017.12.001. PMID: 29273277
Weaver JJ, Natarajan N, Shaw DWW, Apkon SD, Koo KSH, Shivaram GM, Monroe EJ
Pediatr Radiol 2018 Mar;48(3):392-397. Epub 2017 Nov 13 doi: 10.1007/s00247-017-4031-6. PMID: 29130140
Luu KT, Norris DA, Gunawan R, Henry S, Geary R, Wang Y
J Clin Pharmacol 2017 Aug;57(8):1031-1041. Epub 2017 Mar 29 doi: 10.1002/jcph.884. PMID: 28369979
Mehta NM, Newman H, Tarrant S, Graham RJ
Pediatr Neurol 2016 Apr;57:80-3. Epub 2015 Dec 24 doi: 10.1016/j.pediatrneurol.2015.12.015. PMID: 26803333
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN
Brain 2015 Feb;138(Pt 2):293-310. Epub 2014 Dec 14 doi: 10.1093/brain/awu356. PMID: 25497877Free PMC Article

Diagnosis

Yoshioka M, Morisada N, Toyoshima D, Yoshimura H, Nishio H, Iijima K, Takeshima Y, Uehara T, Kosaki K
Brain Dev 2018 Apr;40(4):343-347. Epub 2017 Dec 19 doi: 10.1016/j.braindev.2017.12.001. PMID: 29273277
Lin PJ, Yeh WS, Neumann PJ
Pediatr Neurol 2017 Jan;66:69-75. Epub 2016 Sep 15 doi: 10.1016/j.pediatrneurol.2016.09.008. PMID: 27769729
Arakawa R, Arakawa M, Kaneko K, Otsuki N, Aoki R, Saito K
Pediatr Neurol 2016 Aug;61:70-5. Epub 2016 May 26 doi: 10.1016/j.pediatrneurol.2016.05.009. PMID: 27353697
Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L
Brain Dev 2016 Aug;38(7):685-9. Epub 2016 Feb 24 doi: 10.1016/j.braindev.2016.02.001. PMID: 26922252
Lin CW, Kalb SJ, Yeh WS
Pediatr Neurol 2015 Oct;53(4):293-300. Epub 2015 Jun 10 doi: 10.1016/j.pediatrneurol.2015.06.002. PMID: 26260993

Therapy

Luu KT, Norris DA, Gunawan R, Henry S, Geary R, Wang Y
J Clin Pharmacol 2017 Aug;57(8):1031-1041. Epub 2017 Mar 29 doi: 10.1002/jcph.884. PMID: 28369979
Lin PJ, Yeh WS, Neumann PJ
Pediatr Neurol 2017 Jan;66:69-75. Epub 2016 Sep 15 doi: 10.1016/j.pediatrneurol.2016.09.008. PMID: 27769729
Haché M, Swoboda KJ, Sethna N, Farrow-Gillespie A, Khandji A, Xia S, Bishop KM
J Child Neurol 2016 Jun;31(7):899-906. Epub 2016 Jan 27 doi: 10.1177/0883073815627882. PMID: 26823478Free PMC Article
Ohuchi K, Funato M, Kato Z, Seki J, Kawase C, Tamai Y, Ono Y, Nagahara Y, Noda Y, Kameyama T, Ando S, Tsuruma K, Shimazawa M, Hara H, Kaneko H
Stem Cells Transl Med 2016 Feb;5(2):152-63. Epub 2015 Dec 18 doi: 10.5966/sctm.2015-0059. PMID: 26683872Free PMC Article
Wertz MH, Sahin M
Ann N Y Acad Sci 2016 Feb;1366(1):5-19. Epub 2015 Jul 14 doi: 10.1111/nyas.12813. PMID: 26173388Free PMC Article

Prognosis

Mousa MA, Aria DJ, Schaefer CM, Kaye RD, Abruzzo TA, Bernes SM, Willard SD, Riemann MC, Towbin RB
Pediatr Radiol 2018 Nov;48(12):1797-1805. Epub 2018 Jul 18 doi: 10.1007/s00247-018-4206-9. PMID: 30022258
Ikeda A, Yamashita S, Tsuyusaki Y, Tanaka M, Tanaka Y, Hashiguchi A, Takashima H, Goto T
Brain Dev 2018 Feb;40(2):155-158. Epub 2017 Sep 9 doi: 10.1016/j.braindev.2017.08.004. PMID: 28899595
Luu KT, Norris DA, Gunawan R, Henry S, Geary R, Wang Y
J Clin Pharmacol 2017 Aug;57(8):1031-1041. Epub 2017 Mar 29 doi: 10.1002/jcph.884. PMID: 28369979
Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J
Hum Mutat 2017 Jun;38(6):611-614. Epub 2017 Mar 28 doi: 10.1002/humu.23211. PMID: 28251733Free PMC Article
Ho HM, Tseng YH, Hsin YM, Chou FH, Lin WT
J Adv Nurs 2016 Nov;72(11):2695-2705. Epub 2016 Jun 30 doi: 10.1111/jan.13042. PMID: 27293032

Clinical prediction guides

Ar Rochmah M, Shima A, Harahap NIF, Niba ETE, Morisada N, Yanagisawa S, Saito T, Kaneko K, Saito K, Morioka I, Iijima K, Lai PS, Bouike Y, Nishio H, Shinohara M
Kobe J Med Sci 2017 Oct 16;63(2):E41-E44. PMID: 29434173Free PMC Article
Luu KT, Norris DA, Gunawan R, Henry S, Geary R, Wang Y
J Clin Pharmacol 2017 Aug;57(8):1031-1041. Epub 2017 Mar 29 doi: 10.1002/jcph.884. PMID: 28369979
Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J
Hum Mutat 2017 Jun;38(6):611-614. Epub 2017 Mar 28 doi: 10.1002/humu.23211. PMID: 28251733Free PMC Article
Bertoli S, De Amicis R, Mastella C, Pieri G, Giaquinto E, Battezzati A, Leone A, Baranello G
Clin Nutr 2017 Dec;36(6):1674-1680. Epub 2016 Nov 16 doi: 10.1016/j.clnu.2016.10.020. PMID: 27890489Free PMC Article
Mehta NM, Newman H, Tarrant S, Graham RJ
Pediatr Neurol 2016 Apr;57:80-3. Epub 2015 Dec 24 doi: 10.1016/j.pediatrneurol.2015.12.015. PMID: 26803333

Recent systematic reviews

Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL
Orphanet J Rare Dis 2017 Apr 11;12(1):67. doi: 10.1186/s13023-017-0613-5. PMID: 28399889Free PMC Article
Moore GE, Lindenmayer AW, McConchie GA, Ryan MM, Davidson ZE
Neuromuscul Disord 2016 Jul;26(7):395-404. Epub 2016 May 10 doi: 10.1016/j.nmd.2016.05.005. PMID: 27241822
Lin CW, Kalb SJ, Yeh WS
Pediatr Neurol 2015 Oct;53(4):293-300. Epub 2015 Jun 10 doi: 10.1016/j.pediatrneurol.2015.06.002. PMID: 26260993
Porro F, Rinchetti P, Magri F, Riboldi G, Nizzardo M, Simone C, Zanetta C, Faravelli I, Corti S
J Neurol Sci 2014 Nov 15;346(1-2):35-42. Epub 2014 Sep 16 doi: 10.1016/j.jns.2014.09.010. PMID: 25248952
Wadman RI, Bosboom WM, van der Pol WL, van den Berg LH, Wokke JH, Iannaccone ST, Vrancken AF
Cochrane Database Syst Rev 2012 Apr 18;(4):CD006282. doi: 10.1002/14651858.CD006282.pub4. PMID: 22513940

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