PedAM

Pediatric Disease Annotations & Medicines


	spasticity

Disease ID	1527
Disease	spasticity
Definition	A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Synonym	muscle spasm - tone muscle spasticity muscle spasticity [disease/finding] muscles spasticity muscular spasticity spastic spasticity (finding) spasticity (qualifier value) spasticity [ambiguous] spasticity muscle spasticity, muscle
UMLS	C0026838
MeSH	D009128
SNOMED-CT	SNOMEDCT_US_2016_09_01:221360009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:49) C0007789 \| cerebral palsy \| 56 C0026769 \| multiple sclerosis \| 52 C0004134 \| ataxia \| 6 C0018991 \| hemiplegia \| 3 C0030486 \| paraplegia \| 3 C0013421 \| dystonia \| 3 C0034372 \| quadriplegia \| 2 C0002736 \| amyotrophic lateral sclerosis \| 2 C0442874 \| neuropathy \| 2 C0040188 \| tic disorders \| 2 C0023882 \| spastic diplegia \| 2 C0338596 \| spastic cerebral palsy \| 2 C0034372 \| tetraplegia \| 1 C0010678 \| cysticercosis \| 1 C0006111 \| brain disorder \| 1 C0751965 \| secondary progressive multiple sclerosis \| 1 C0042075 \| urological disorders \| 1 C0751967 \| relapsing-remitting multiple sclerosis \| 1 C0524851 \| neurodegenerative disorders \| 1 C0700594 \| radiculopathy \| 1 C0027765 \| neurological disorders \| 1 C0028738 \| nystagmus \| 1 C0426970 \| spastic quadriplegia \| 1 C0023521 \| krabbe disease \| 1 C0027765 \| neurological disorder \| 1 C0026846 \| muscle wasting \| 1 C0036454 \| visual field defects \| 1 C0085084 \| motor neuron disease \| 1 C0751265 \| learning disability \| 1 C0035229 \| respiratory insufficiency \| 1 C0151313 \| sensory neuropathy \| 1 C0042075 \| urological diseases \| 1 C0037928 \| myelopathy \| 1 C0002726 \| amyloidosis \| 1 C0011570 \| depression \| 1 C0006111 \| brain disorders \| 1 C0271355 \| lateral rectus palsy \| 1 C0392549 \| infantile cerebral palsy \| 1 C0024776 \| maple syrup urine disease \| 1 C0006112 \| metabolic encephalopathy \| 1 C0699739 \| hereditary sensory neuropathy \| 1 C0338451 \| frontotemporal dementia \| 1 C0270612 \| leukoencephalopathy \| 1 C0011334 \| cavities \| 1 C0036454 \| visual field defect \| 1 C0029089 \| ophthalmoplegia \| 1 C0027765 \| neurological disease \| 1 C0007758 \| cerebellar ataxia \| 1 C0497327 \| dementia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CNR1 \| 1268 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1527
Disease	spasticity
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:90) HP:0001297 \| Cerebral vascular events \| 64 HP:0100021 \| Cerebral palsy \| 56 HP:0012531 \| Pain \| 16 HP:0001269 \| Hemiparesis \| 7 HP:0001251 \| Ataxia \| 7 HP:0001288 \| Gait disturbance \| 6 HP:0001270 \| Motor retardation \| 4 HP:0001263 \| Developmental retardation \| 4 HP:0002169 \| Clonus \| 4 HP:0001347 \| Hyperreflexia \| 4 HP:0001332 \| Dystonia \| 3 HP:0010550 \| Paraplegia \| 3 HP:0001300 \| Parkinsonism \| 3 HP:0002301 \| Hemiplegia \| 3 HP:0002445 \| Paralysis of all four limbs \| 3 HP:0001371 \| Flexion contractures of joints \| 3 HP:0011099 \| Spastic hemiparesis \| 3 HP:0003487 \| Extensor plantar reflexes \| 3 HP:0003470 \| Inability to move \| 3 HP:0001298 \| Encephalopathy \| 3 HP:0001324 \| Muscular weakness \| 3 HP:0001250 \| Seizures \| 2 HP:0002385 \| Paraparesis \| 2 HP:0001945 \| Fever \| 2 HP:0001252 \| Hypotonia \| 2 HP:0100033 \| Tic disorder \| 2 HP:0002510 \| Spastic quadriplegia \| 2 HP:0001264 \| Spastic diplegia \| 2 HP:0011448 \| Ankle clonus \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0002066 \| Gait ataxia \| 2 HP:0007354 \| Amyotrophic lateral sclerosis \| 2 HP:0001266 \| Choreoathetosis \| 1 HP:0002145 \| Frontotemporal dementia \| 1 HP:0002448 \| Progressive encephalopathy \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0001290 \| Generalized hypotonia \| 1 HP:0001249 \| Mental retardation \| 1 HP:0001760 \| Foot deformities \| 1 HP:0002987 \| Elbow contracture \| 1 HP:0007098 \| Choreoathetosis, episodic \| 1 HP:0002073 \| Cerebellar ataxia, progressive \| 1 HP:0002251 \| Hirschsprung megacolon \| 1 HP:0012758 \| Neurodevelopmental delay \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0003690 \| Limb weakness \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0002196 \| Myelopathy \| 1 HP:0000716 \| Depression \| 1 HP:0004305 \| Involuntary muscle contractions \| 1 HP:0002315 \| Headaches \| 1 HP:0003418 \| Back pain \| 1 HP:0002313 \| Spastic paraparesis \| 1 HP:0000726 \| Dementia \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0002827 \| Hip dislocation \| 1 HP:0002527 \| Falls \| 1 HP:0002673 \| Coxa valga \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0002063 \| Muscle rigidity \| 1 HP:0002071 \| Extrapyramidal dysfunction \| 1 HP:0000734 \| Disinhibition \| 1 HP:0003011 \| Abnormality of the musculature \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0000478 \| Abnormal eye \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0001155 \| Hand anomalies \| 1 HP:0002093 \| progressive respiratory failure \| 1 HP:0000763 \| Sensory neuropathy \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0012378 \| Fatigue \| 1 HP:0030834 \| Shoulder pain \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0002067 \| Bradykinesia \| 1 HP:0007330 \| Frontal encephalocele \| 1 HP:0002084 \| Bifid skull \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0002514 \| Intracranial calcifications \| 1 HP:0006986 \| Uncontrollable movement in upper arms \| 1 HP:0001762 \| Talipes equinovarus \| 1 HP:0002355 \| Difficulty walking \| 1 HP:0100022 \| Movement disorder \| 1 HP:0000496 \| Ocular movement abnormalities \| 1 HP:0000969 \| Dropsy \| 1 HP:0002321 \| Vertigo \| 1 HP:0000639 \| Nystagmus \| 1 HP:0001649 \| Tachycardia \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0010871 \| Ataxia, sensory \| 1

Disease ID	1527
Disease	spasticity
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0030193 \| pain \| 16 C0235169 \| excitability \| 3 C0221166 \| paraparesis \| 2 C0235031 \| neurological symptom \| 1 C0026827 \| muscle relaxation \| 1 C0026650 \| movement disorders \| 1 C0011570 \| depression \| 1 C0007758 \| cerebellar ataxia \| 1 C0037011 \| shoulder pain \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894107	9989622	2395	FXN	umls:C0443306	BeFree	In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.	0.000542884	1999	FXN	9	69064942	G	C,T
rs137852972	21750110	26580	BSCL2	umls:C0443306	BeFree	The N88S seipin tg mice develop a progressive spastic motor deficit, reactive gliosis in the spinal cord and neurogenic muscular atrophy, recapitulating the symptomatic and pathological phenotype in patients of seipinopathy.	0.000542884	2011	BSCL2;HNRNPUL2-BSCL2	11	62702499	T	C
rs142157346	9989622	2395	FXN	umls:C0443306	BeFree	In contrast, the only two missense mutations located in the amino-terminal half of mature frataxin (D122Y and G130V) cause an atypical and milder clinical presentation (early-onset spastic gait with slow disease progression, absence of dysarthria, retained or brisk tendon reflexes, and mild or no cerebellar ataxia), suggesting that they only partially affect frataxin function.	0.000542884	1999	FXN	9	69053240	G	T
rs1799983	15778808	4846	NOS3	umls:C0443306	BeFree	Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) in patients with coexistent hypertrophic cardiomyopathy and coronary spastic angina.	0.001085767	2005	NOS3	7	150999023	T	G
rs1799983	9674630	4846	NOS3	umls:C0443306	BeFree	We have identified a missense variant, Glu298Asp, in exon 7 of the eNOS gene and demonstrated that it is associated with both coronary spastic angina and myocardial infarction.	0.001085767	1998	NOS3	7	150999023	T	G
rs387906799	25253658	547	KIF1A	umls:C0026838	BeFree	A missense mutation in the KIF1A gene (p.Thr99Met) has been reported in a patient with intellectual disability (ID), axial hypotonia and peripheral spasticity.	0.000271442	2014	KIF1A	2	240788118	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:11)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0026838	baclofen	D001418	1134-47-0	muscle spasticity	MESH:D009128	therapeutic	11546903
C0026838	carbamazepine	D002220	298-46-4	muscle spasticity	MESH:D009128	marker/mechanism	2027499
C0026838	clonidine	D003000	4205-90-7	muscle spasticity	MESH:D009128	therapeutic	8239963
C0026838	enflurane	D004737	13838-16-9	muscle spasticity	MESH:D009128	marker/mechanism	3674476
C0026838	fluoxetine	D005473	54910-89-3	muscle spasticity	MESH:D009128	marker/mechanism	10084445
C0026838	lidocaine	D008012	137-58-6	muscle spasticity	MESH:D009128	therapeutic	2008943
C0026838	methotrexate	D008727	1959/5/2	muscle spasticity	MESH:D009128	marker/mechanism	6939956
C0026838	morphine	D009020	57-27-2	muscle spasticity	MESH:D009128	marker/mechanism	6176094
C0026838	phenytoin	D010672	57-41-0	muscle spasticity	MESH:D009128	marker/mechanism	109744
C0026838	prochlorperazine	D011346	58-38-8	muscle spasticity	MESH:D009128	marker/mechanism	2000539
C0026838	thiopental	D013874	76-75-5	muscle spasticity	MESH:D009128	marker/mechanism	900439

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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