MCID: SPS003
MIFTS: 52

Spastic Diplegia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Spastic Diplegia

MalaCards integrated aliases for Spastic Diplegia:

Name: Spastic Diplegia 12 54 6 15
Diplegic Infantile Cerebral Palsy 12 70
Little's Disease 12 70
Cerebral Palsy 44 70
Cerebral Spastic Infantile Paralysis 12
Infantile Diplegic Cerebral Palsy 12
Infantile Spastic Cerebral Palsy 12
Spastic Cerebral Palsy 70
Littles Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10965
ICD9CM 34 343.0
MeSH 44 D002547
NCIt 50 C34781
SNOMED-CT 67 1178005 275469001
ICD10 32 G80.1
UMLS 70 C0007789 C0023882 C0154695 more

Summaries for Spastic Diplegia

Disease Ontology : 12 A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.

MalaCards based summary : Spastic Diplegia, also known as diplegic infantile cerebral palsy, is related to spastic quadriplegia and spastic paraplegia 52, autosomal recessive, and has symptoms including seizures, tremor and back pain. An important gene associated with Spastic Diplegia is SPAST (Spastin), and among its related pathways/superpathways are RAB GEFs exchange GTP for GDP on RABs and COPI-independent Golgi-to-ER retrograde traffic. The drugs Levodopa and Trihexyphenidyl have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotype is nervous system.

Wikipedia : 73 Spastic diplegia, historically known as Little's disease, is a form of cerebral palsy (CP) that is a... more...

Related Diseases for Spastic Diplegia

Diseases related to Spastic Diplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 773)
# Related Disease Score Top Affiliating Genes
1 spastic quadriplegia 33.0 TBC1D20 SEPSECS ARG1
2 spastic paraplegia 52, autosomal recessive 32.2 AP4S1 AP4B1
3 spastic paraplegia 47, autosomal recessive 32.2 SPAST AP4S1 AP4B1
4 warburg micro syndrome 4 32.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
5 warburg micro syndrome 3 32.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
6 warburg micro syndrome 1 32.1 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
7 spastic paraplegia 50, autosomal recessive 32.1 AP4S1 AP4B1
8 hereditary spastic paraplegia 51 32.0 AP4S1 AP4B1
9 warburg micro syndrome 2 31.9 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18
10 cerebral palsy 31.4 L1CAM CTNNB1 AP4S1 AP4B1
11 spasticity 31.4 SPAST RAB3GAP1 CTNNB1
12 hereditary spastic paraplegia 31.3 SPAST L1CAM AP4S1 AP4B1 ALDH3A2
13 spastic cerebral palsy 31.2 TBC1D20 RAB3GAP2 RAB3GAP1 ARG1 AP4S1 AP4B1
14 paraplegia 30.2 SPAST L1CAM AP4S1 AP4B1
15 quadriplegia 30.0 SEPSECS ARG1 AP4S1 AP4B1 ALDH3A2
16 microphthalmia 29.9 TBC1D20 RAB3GAP2 RAB3GAP1 RAB18 CTNNB1
17 microcephaly 29.6 TBC1D20 SEPSECS RAB3GAP2 RAB3GAP1 RAB18 MSD
18 ap-4-associated hereditary spastic paraplegia 29.6 AP4S1 AP4B1
19 disease of mental health 29.5 SPAST L1CAM KCNJ10 CTNNB1 ATRX ARG1
20 cerebral palsy, ataxic, autosomal recessive 11.9
21 dyskinetic cerebral palsy 11.8
22 cerebral palsy, spastic quadriplegic, 1 11.7
23 spastic monoplegia 11.6
24 spastic diplegia cerebral palsy 11.6
25 neurodevelopmental disorder with spastic diplegia and visual defects 11.6
26 cerebral palsy, spastic quadriplegic, 2 11.6
27 cerebral palsy, spastic quadriplegic, 3 11.6
28 intellectual disability - athetosis - microphthalmia 11.5
29 mixed cerebral palsy 11.5
30 spastic diplegia and mental retardation 11.5
31 severe intellectual disability-progressive spastic diplegia syndrome 11.4
32 renpenning syndrome 1 11.4
33 spastic paraplegia 51, autosomal recessive 11.3
34 inherited congenital spastic tetraplegia 11.3
35 paine syndrome 11.3
36 suprabulbar paresis, congenital 11.2
37 swallowing disorders 11.2
38 dysphagia 11.2
39 athetosis 11.2
40 fetal methylmercury syndrome 11.1
41 hypotonia 11.1
42 epilepsy, photogenic, with spastic diplegia and mental retardation 11.1
43 neurodevelopmental disorder with spastic paraplegia and microcephaly 11.1
44 spastic hemiplegia 11.1
45 cerebral atrophy 11.1
46 saccharopinuria 11.1
47 spastic paraplegia 20, autosomal recessive 11.1
48 mental retardation, x-linked, syndromic, turner type 11.1
49 spastic paraplegia 2, x-linked 11.1
50 glycine encephalopathy 11.1

Comorbidity relations with Spastic Diplegia via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Spastic Diplegia:



Diseases related to Spastic Diplegia

Symptoms & Phenotypes for Spastic Diplegia

UMLS symptoms related to Spastic Diplegia:


seizures; tremor; back pain; abnormality of extrapyramidal motor function; involuntary movements; dystonia; headache; torticollis; syncope; athetosis; pain; opisthotonus; myokymia; muscle fibrillation; chronic pain; sciatica; asterixis; vertigo/dizziness; sleeplessness; muscle rigidity; muscle spasticity

MGI Mouse Phenotypes related to Spastic Diplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.44 ALDH3A2 AP4B1 ARG1 ATRX CTNNB1 KCNJ10

Drugs & Therapeutics for Spastic Diplegia

Drugs for Spastic Diplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 179)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levodopa Approved Phase 4 59-92-7 6047
2
Trihexyphenidyl Approved Phase 4 58947-95-8, 144-11-6 5572
3
Topiramate Approved Phase 4 97240-79-4 5284627
4
Amitriptyline Approved Phase 4 50-48-6 2160
5
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
6
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
7
Tetrabenazine Approved, Investigational Phase 4 58-46-8 6018
8
Perphenazine Approved Phase 4 58-39-9 4748
9
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
10
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
11
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
12
Racepinephrine Approved Phase 4 329-65-7 838
13
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
14
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
15
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
16
Amantadine Approved Phase 4 768-94-5 2130
17
Acetaminophen Approved Phase 4 103-90-2 1983
18
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
19
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
20
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
21
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
22 Dihydroxyphenylalanine Phase 4
23 Carbidopa, levodopa drug combination Phase 4
24 Muscarinic Antagonists Phase 4
25 Cholinergic Antagonists Phase 4
26 Acidophilus Phase 4
27 Sunflower Phase 4
28 Epoetin alfa Phase 4 113427-24-0
29 Hematinics Phase 4
30 Calcium, Dietary Phase 4
31 calcium channel blockers Phase 4
32 Hypoglycemic Agents Phase 4
33 incobotulinumtoxinA Phase 4
34 Gastrointestinal Agents Phase 4
35 Psychotropic Drugs Phase 4
36 Excitatory Amino Acid Antagonists Phase 4
37 Sodium Channel Blockers Phase 4
38 Antidepressive Agents Phase 4
39 Amitriptyline, perphenazine drug combination Phase 4
40 Antiemetics Phase 4
41 GABA Modulators Phase 4
42 Diuretics, Potassium Sparing Phase 4
43 Antidepressive Agents, Tricyclic Phase 4
44 Antipsychotic Agents Phase 4
45 Anti-Anxiety Agents Phase 4
46 Antiparkinson Agents Phase 4
47 Vasoconstrictor Agents Phase 4
48 Adrenergic beta-Agonists Phase 4
49 Anti-Asthmatic Agents Phase 4
50 Epinephryl borate Phase 4

Interventional clinical trials:

(show top 50) (show all 854)
# Name Status NCT ID Phase Drugs
1 Consequence of Dexmedetomidine on Emergence Deliruim After Sevoflurane Anesthesia in Children With Cerebral Palsy Unknown status NCT02244515 Phase 4 dexmedetomidine
2 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
3 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
4 Efficacy of the Supplementation With a Symbiotic, a Prebiotic and a Probiotic to Produce a Beneficial Effect on the Intestinal Microbiota and on the Characteristics of Feces in Children With Cerebral Palsy (CP) and Chronic Constipation Completed NCT03117322 Phase 4
5 Effect of Erythropoietin on Preterm Brain Injury Completed NCT02036073 Phase 4 recombinant human erythropoietin
6 Recurrent Crying Spells in Cerebral Palsy With Spastic Quadriparesis - A Crossover Study Completed NCT01955655 Phase 4 Baclofen
7 A Placebo Controlled, Cross-over, Double Blind, Randomized, Clinical Trial to Compare the Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
8 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
9 Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children Completed NCT00154830 Phase 4
10 SPREAD AND EFFECTIVENESS OF BOTULINUM NEUROTOXIN A IN SPASTIC EQUINUS IN CEREBRAL PALSY:SHORT-TERM STUDY Completed NCT01276015 Phase 4 Botulinum Toxin Type A
11 Management of Excessive Crying in Cerebral Palsy -A Placebo-controlled, Fixed-sequence, Crossover Clinical Trial. Completed NCT04523935 Phase 4 Baclofen, Diazepam, Clonazepam, Trihexyphenidyl, Tetrabenazine, Gabapentin, Topiramate, Lamotrigine, Amitriptyline.
12 Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies. A Prospective, Randomized and Double-blinded Study Completed NCT00964639 Phase 4 Ropivacaine;Saline
13 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Safety and Efficacy of MEDITOXIN® in Children With Cerebral Palsy Completed NCT01256021 Phase 4 Botulinum Toxin Type A
14 Efficacy of a Peri-Operative Surgical-Site, Multimodal Drug Injection in Pediatric Patients With Cerebral Palsy Undergoing Hip Surgery: A Randomized Controlled Trial Recruiting NCT04074265 Phase 4 Ropivacaine injection;normal saline
15 Use of Amantadine in Treating Cognitive and Motor Impairments in Adolescents and Adults With Cerebral Palsy Recruiting NCT04273737 Phase 4 Amantadine Hydrochloride
16 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
17 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
18 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
19 A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging Active, not recruiting NCT02633241 Phase 4 Dexmedetomidine-Propofol
20 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
21 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
22 Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy Withdrawn NCT01386255 Phase 4 Baclofen;placebo
23 Phase 2/3 Application of Botulinum Neurotoxin Type A in Salivary Glands as a Treatment of Chronic Drooling in Patients With Cerebral Palsy: A Controlled Clinical Trial. Unknown status NCT01489904 Phase 2, Phase 3
24 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
25 Modulation of Brain Plasticity After Perinatal Stroke: The PLASTIC CHAMPS Trial Unknown status NCT01189058 Phase 2, Phase 3
26 Safety and Efficacy of Bone Marrow MNC for the Treatment of Cerebral Palsy in Subjects Below Years. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01832454 Phase 2, Phase 3
27 Project:Intensive Habilitation (PIH) -a New Norwegian Multidisciplinary Program for Intensive Training for Children With Disabilities Unknown status NCT00202761 Phase 2, Phase 3
28 Magnesium Prevention of Brain Injury in Preterm Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
29 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Unknown status NCT03110341 Phase 3 Erythropoietin;Normal saline
30 Stimulation for Perinatal Stroke Optimizing Recovery Trajectories Unknown status NCT03216837 Phase 2, Phase 3
31 Evaluation of the Efficacy of "MEOPA" Used to Obtain Better ROM Immediately After Multilevel Surgery in Children With Spastic Diplegia, Quadriplegia or Hemiplegia. Completed NCT00632528 Phase 3 MEOPA;Medicinal air
32 Efficacy and Functional Outcomes of Botulinum Toxin A Injections to Hamstrings in Flexed Knee Gait in Cerebral Palsy: A Double-Blind, Randomized, Placebo-Controlled Trial Completed NCT00261131 Phase 3 Botulinum Toxin A
33 Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Children With Cerebral Paralysis Completed NCT01929434 Phase 3
34 Is it Possible to Improve Static and Dynamic Postural Stability in Cerebral Palsy Children by Modulating Attention? Completed NCT01799304 Phase 3
35 Administration of Antenatal Magnesium Sulphate for Prevention of Cerebral Palsy and Death in Preterm Infants (MASP-STUDY) Completed NCT01492608 Phase 3 Magnesium sulphate
36 Integrated Management With Brain Stimulation and Hybrid Training Enhances Functional Gains in Children With Cerebral Palsy Treated by Botulinum Toxin A Completed NCT03302871 Phase 3 Botulinum toxin type A
37 A Randomized Controlled Trial on Integrated Management of Pronation Deformity of Children With Cerebral Palsy Treated by Botulinum Toxin-A Completed NCT03472261 Phase 3 Botulinum toxin type A
38 Effectiveness of Intermittent Serial Casting on Spastic Wrist Flexion Deformity in Children With Cerebral Palsy Treated By Botulinum Toxin A Completed NCT03306212 Phase 3 Botulinum toxin A
39 Intrathecal Baclofen. Evaluation of a Therapy for Refractory Spasticity in Children With Cerebral Palsy Completed NCT00367068 Phase 3 baclofen, intrathecal
40 Botulinum Toxin Efficiency on Spasticity of Rectus Femoris and Semitendinosus Muscles as Functional Agonist and Antagonist Muscles. Assessment of Efficiency of Botulinum Toxin on Spasticity in Agonist and Antagonist Muscles Using Clinical Assessment and Gait Analysis in Cerebral Palsy Children: Rectus Femoris and Semitendinosus Completed NCT00133861 Phase 2, Phase 3 Botulinum toxin
41 Double-blinded, Randomized, Active Control Comparative, Multicenter-designed, Phase III Clinical Trial to Evaluate the Safety and Efficacy of "Botulax®" Versus "Botox®" in Children With Cerebral Palsy Completed NCT01787344 Phase 3 Botulinum Toxin Type A(Botox®);Botulinum toxin type A(Botulax®)
42 A Six-Month, Multi-Center, Open-Label Study to Assess the Safety and Efficacy of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions Completed NCT00491894 Phase 3 Oral Glycopyrrolate Liquid
43 Post-operative Pain in Children With Cerebral Palsy Following Major Hip Surgery: a Double Blind Randomised Placebo Controlled Trial of Pre-operative Botulinum Toxin Type A Completed NCT01437644 Phase 3 botulinum toxin intramuscular injection
44 Open-label, Non-controlled, Multicenter Long-term Study to Investigate the Safety and Efficacy of Xeomin® (Incobotulinumtoxin A, NT 201) for the Treatment of Spasticity of the Lower Limb(s) or of Combined Spasticity of Upper and Lower Limb in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT01905683 Phase 3 IncobotulinumtoxinA (16-20 Units per kg body weight)
45 Prospective, Multicenter, Randomized, Double-blind, Parallel-group, Dose-response Study of Three Doses Xeomin® (incobotulinumtoxinA, NT 201) for the Treatment of Lower Limb Spasticity in Children and Adolescents (Age 2 - 17 Years) With Cerebral Palsy Completed NCT01893411 Phase 3 IncobotulinumtoxinA (16 Units per kg body weight);IncobotulinumtoxinA (12 Units per kg body weight);IncobotulinumtoxinA (4 Units per kg body weight)
46 Randomized Clinical Trial of the Beneficial Effects of Antenatal Magnesium Sulfate (BEAM) Completed NCT00014989 Phase 3 magnesium sulfate
47 The Efficacy, Safety and Tolerability of Sativex as an Adjunctive Treatment to Existing Anti-spasticity Medications in Children Aged 8 to 18 Years With Spasticity Due to Cerebral Palsy or Traumatic Central Nervous System Injury Who Have Not Responded Adequately to Their Existing Anti-spasticity Medications: a Parallel Group Randomised, Double-blind, Placebo-controlled Study Followed by a 24-week Open Label Extension Phase Completed NCT01898520 Phase 3 Sativex;Placebo
48 A Phase III, Prospective, Multicentre, Open Label, Extension Study Assessing the Long Term Safety and Efficacy of Repeated Treatment With DYSPORT® Used in the Treatment of Lower Limb Spasticity in Children With Dynamic Equinus Foot Deformity Due to Cerebral Palsy Completed NCT01251380 Phase 3
49 A Phase III, Multicentre, Double Blind, Prospective, Randomised, Placebo Controlled Study Assessing the Efficacy and Safety of DYSPORT® Used in the Treatment of Lower Limb Spasticity in Children With Dynamic Equinus Foot Deformity Due to Cerebral Palsy Completed NCT01249417 Phase 3 Placebo
50 Individualized Neurodevelopmental Treatment Completed NCT00922077 Phase 3

Search NIH Clinical Center for Spastic Diplegia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Baclofen
Dantrolene
Dantrolene Sodium

Cochrane evidence based reviews: cerebral palsy

Genetic Tests for Spastic Diplegia

Anatomical Context for Spastic Diplegia

MalaCards organs/tissues related to Spastic Diplegia:

40
Bone, Brain, Bone Marrow, Liver, Eye, Thyroid, Fetal Brain

Publications for Spastic Diplegia

Articles related to Spastic Diplegia:

(show top 50) (show all 1020)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. 61 54
19197545 2009
3
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. 61 54
15834613 2005
4
Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations. 61 54
11701594 2001
5
Arginase-1 deficiency in neural cells does not contribute to neurodevelopment or functional outcomes after sciatic nerve injury. 61
33561495 2021
6
Effects of Kinect Video Game Training on Lower Extremity Motor Function, Balance, and Gait in Adolescents with Spastic Diplegia Cerebral Palsy: A Pilot Randomized Controlled Trial. 61
32981401 2021
7
Suit therapy versus whole-body vibration on bone mineral density in children with spastic diplegia. 61
33657757 2021
8
Neuroradiologic Features Associated With Severe Restriction of Functional Mobility in Children With Cerebral Palsy in North India. 61
33709827 2021
9
Associations of hamstring and triceps surae muscle spasticity and stance phase gait kinematics in children with spastic diplegic cerebral palsy. 61
33486260 2021
10
Muscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity. 61
33725695 2021
11
Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia. 61
32770317 2021
12
Dynamic and Static Stability in Para-Athletes with Cerebral Palsy Considering their Impairment Profile. 61
33599066 2021
13
Microsurgical DREZotomy in Spastic Cerebral Palsy: Poor Man's Baclofen Pump. 61
33618044 2021
14
How I do it: Selective dorsal rhizotomy, using interlaminar approaches, for spastic diplegia/quadriplegia in children with cerebral palsy. 61
33624116 2021
15
Energy Expenditure Index as a measure of efficiency of walking on outdoor uneven surface in individuals with cerebral palsy. 61
31230483 2021
16
The effects of dual-task training on balance and gross motor function in children with spastic diplegia. 61
33728285 2021
17
Variability in Cerebral Palsy Diagnosis. 61
33402528 2021
18
Highly Selective Partial Neurectomy for Lower-Extremity Spasticity: 2-Dimensional Operative Video. 61
33582808 2021
19
Immediate effects of short period lower limb ergometer exercise in adolescent and young adult patients with cerebral palsy and spastic diplegia. 61
33519075 2021
20
Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up. 61
33406966 2021
21
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. 61
33350591 2021
22
Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report. 61
33314525 2020
23
Cerebral Palsy and Epilepsy in Children: Clinical Perspectives on a Common Comorbidity. 61
33396243 2020
24
Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene. 61
33264726 2020
25
A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature. 61
33510603 2020
26
Anthropometrical Features of Para-Footballers According to Their Cerebral Palsy Profiles and Compared to Controls. 61
33291750 2020
27
Recovery of HIV encephalopathy in perinatally infected children on antiretroviral therapy. 61
32779195 2020
28
No support that early selective dorsal rhizotomy increase frequency of scoliosis and spinal pain - a longitudinal population-based register study from four to 25 years of age. 61
33246436 2020
29
Quantification of upper body strategy during gait in children with spastic diplegia using a summary parameter. 61
32700967 2020
30
Intraobserver Reliability and Construct Validity of the Squat Test in Children With Cerebral Palsy. 61
32991569 2020
31
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. 61
32979048 2020
32
Effects of horse riding simulator on sitting motor function in children with spastic cerebral palsy. 61
32808394 2020
33
A long-term follow-up study of spinal abnormalities and pain in adults with cerebral palsy and spastic diplegia more than 25 years after selective dorsal rhizotomy. 61
33065536 2020
34
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. 61
32633079 2020
35
Changes in Ankle Range of Motion, Gait Function and Standing Balance in Children with Bilateral Spastic Cerebral Palsy after Ankle Mobilization by Manual Therapy. 61
32961844 2020
36
The Influence of Hippotherapy on the Body Posture in a Sitting Position among Children with Cerebral Palsy. 61
32961681 2020
37
Selective dorsal rhizotomy: functional anatomy of the conus-cauda and essentials of intraoperative neurophysiology. 61
32638074 2020
38
A case study on interface pressure pattern of two garment orthoses on a child with cerebral palsy. 61
32459140 2020
39
A novel compound heterozygous mutation in the arginase-1 gene identified in a Chinese patient with argininemia: A case report. 61
32769929 2020
40
Spastic Diplegia in a Haitian Girl with Angelman Syndrome. 61
32341813 2020
41
Effect of Action Observation Training on Spasticity, Gross Motor Function, and Balance in Children with Diplegia Cerebral Palsy. 61
32570855 2020
42
Using the Edinburgh Visual Gait Score to Compare Ankle-Foot Orthoses, Sensorimotor Orthoses and Barefoot Gait Pattern in Children with Cerebral Palsy. 61
32492892 2020
43
Lower Extremity Strength Profile in Ambulatory Adults with Cerebral Palsy and Spastic Diplegia: Norm Values and Reliability for Hand-Held Dynamometry. 61
31585499 2020
44
Incidence of spinal deformities and the relationship with physical status and back pain in ambulant adults with cerebral palsy and spastic diplegia. 61
31797136 2020
45
Muscle responses to radicular stimulation during lumbo-sacral dorsal rhizotomy for spastic diplegia: Insights to myotome innervation. 61
32199396 2020
46
The level of accomplishment and satisfaction in activity and participation of adults with cerebral palsy and spastic diplegia. 61
31262451 2020
47
Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum. 61
32395410 2020
48
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. 61
32022389 2020
49
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. 61
31735425 2020
50
PIGA related disorder as a range of phenotypes rather than two distinct subtypes. 61
31704190 2020

Variations for Spastic Diplegia

ClinVar genetic disease variations for Spastic Diplegia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPAST NM_014946.4(SPAST):c.1276C>T SNV Pathogenic 448444 rs1060502227 GRCh37: 2:32361662-32361662
GRCh38: 2:32136593-32136593
2 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) SNV Pathogenic 7462 rs137853066 GRCh37: 1:160012129-160012129
GRCh38: 1:160042339-160042339
3 ZDHHC15 NM_144969.3(ZDHHC15):c.473A>G (p.His158Arg) SNV Likely pathogenic 992637 GRCh37: X:74649792-74649792
GRCh38: X:75429957-75429957
4 SEPSECS NM_016955.4(SEPSECS):c.1028_1120+1del Deletion Likely pathogenic 183337 rs1553878395 GRCh37: 4:25128885-25128978
GRCh38: 4:25127263-25127356

Expression for Spastic Diplegia

Search GEO for disease gene expression data for Spastic Diplegia.

Pathways for Spastic Diplegia

Pathways related to Spastic Diplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 RAB3GAP2 RAB3GAP1 RAB18
2 10.25 RAB3GAP2 RAB3GAP1 RAB18

GO Terms for Spastic Diplegia

Cellular components related to Spastic Diplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.8 TBC1D20 SPAST RAB3GAP2 RAB3GAP1 RAB18 ALDH3A2
2 lipid droplet GO:0005811 9.33 SPAST RAB3GAP1 RAB18
3 endosome lumen GO:0031904 9.26 AP4S1 AP4B1
4 AP-4 adaptor complex GO:0030124 8.96 AP4S1 AP4B1
5 endoplasmic reticulum tubular network GO:0071782 8.8 SPAST RAB3GAP1 RAB18

Biological processes related to Spastic Diplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.73 RAB3GAP2 RAB18 AP4S1 AP4B1
2 regulation of T cell proliferation GO:0042129 9.4 TNFSF8 CTNNB1
3 seminiferous tubule development GO:0072520 9.37 TBC1D20 ATRX
4 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP2 RAB3GAP1
5 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.26 RAB3GAP2 RAB3GAP1
6 positive regulation of protein lipidation GO:1903061 9.16 RAB3GAP2 RAB3GAP1
7 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP2 RAB3GAP1
8 lipid droplet organization GO:0034389 8.8 TBC1D20 RAB3GAP1 RAB18

Sources for Spastic Diplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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