Aliases & Classifications for Spastic Diplegia

MalaCards integrated aliases for Spastic Diplegia:

Name: Spastic Diplegia 12 29 55 6 15
Diplegic Infantile Cerebral Palsy 12 73
Little's Disease 12 73
Cerebral Palsy 44 73
Cerebral Spastic Infantile Paralysis 12
Infantile Diplegic Cerebral Palsy 12
Infantile Spastic Cerebral Palsy 12
Spastic Cerebral Palsy 73
Littles Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10965
ICD10 33 G80.1
ICD9CM 35 343.0
MeSH 44 D002547
NCIt 50 C34781

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 warburg micro syndrome 1 and warburg micro syndrome 4, and has symptoms including athetosis, back pain and dystonia. An important gene associated with Spastic Diplegia is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. The drugs Insulin Aspart and Zinc have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and brain.

Wikipedia : 76 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 65)
# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 1 30.6 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 warburg micro syndrome 4 30.6 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
3 warburg micro syndrome 2 30.5 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
4 spastic cerebral palsy 30.1 ALDH3A2 TUBB3
5 spastic diplegia cerebral palsy 12.4
6 spastic diplegia and mental retardation 12.3
7 severe intellectual disability-progressive spastic diplegia syndrome 12.2
8 epilepsy, photogenic, with spastic diplegia and mental retardation 12.0
9 renpenning syndrome 1 11.3
10 hereditary spastic paraplegia 11.3
11 spastic hemiplegia 11.3
12 paine syndrome 11.2
13 homocarnosinosis 11.1
14 warburg micro syndrome 3 11.1
15 spasticity 11.0
16 mental retardation, autosomal dominant 19 11.0
17 mental retardation, autosomal recessive 49 11.0
18 saccharopinuria 11.0
19 spastic paraplegia 20, autosomal recessive 11.0
20 brooks-wisniewski-brown syndrome 11.0
21 spastic paraplegia 2, x-linked 11.0
22 glycine encephalopathy 11.0
23 cerebritis 10.5
24 cerebral palsy 10.5
25 aging 10.2
26 periventricular leukomalacia 10.2
27 leukomalacia 10.2
28 hemiplegia 10.1
29 encephalopathy 10.1
30 steroid-induced glaucoma 10.0 RAB3GAP1 RAB3GAP2
31 argininemia 10.0
32 arthritis 10.0
33 ichthyosis lamellar 1 10.0
34 quadriplegia 10.0
35 ichthyosis 10.0
36 paraplegia 10.0
37 angelman syndrome 9.9
38 epicanthus 9.9
39 neuroblastoma 9.9
40 3-methylglutaconic aciduria, type iii 9.9
41 hsd10 mitochondrial disease 9.9
42 aceruloplasminemia 9.9
43 ataxia-oculomotor apraxia 3 9.9
44 hemangioma 9.9
45 holoprosencephaly 9.9
46 hydrocephalus 9.9
47 osteochondritis dissecans 9.9
48 renal tubular acidosis 9.9
49 ptosis 9.9
50 blepharophimosis 9.9

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:


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

Drugs & Therapeutics for Spastic Diplegia

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

(show top 50) (show all 1659)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Not Applicable 116094-23-6 16132418
2
Zinc Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 7440-66-6 23994
3
Oxytocin Approved, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 50-56-6 439302 53477758
4
Cefditoren Approved, Investigational Phase 4 117467-28-4, 104145-95-1 9571074 9870843
5
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 103-90-2 1983
6
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-27-2 5288826
7
Chlorhexidine Approved, Vet_approved Phase 4,Phase 1,Not Applicable 55-56-1 9552079 2713
8
Tea tree oil Approved Phase 4
9
Curcumin Approved, Investigational Phase 4,Phase 3,Phase 1 458-37-7 969516
10
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Not Applicable 160337-95-1
11
Insulin Lispro Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 133107-64-9
12
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 657-24-9 14219 4091
13
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
14
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
15
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1 171596-29-5 110635
16
Amlodipine Approved Phase 4,Phase 3 88150-42-9 2162
17
Pitavastatin Approved Phase 4,Phase 3 147511-69-1, 147526-32-7 6366718 5282452
18
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1994-09-7, 94-09-7 2337
19
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 93-14-1 3516
20
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
21
Varenicline Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 249296-44-4 5310966
22
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
23
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2 19982-08-2 4054
24
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
25
Ribavirin Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 36791-04-5 37542
26
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 159351-69-6 6442177
27
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 22916-47-8 4189
28
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 53123-88-9 5284616 6436030 46835353
29
Medroxyprogesterone acetate Approved, Investigational Phase 4,Phase 3 71-58-9
30
Chloroprocaine Approved Phase 4,Early Phase 1 133-16-4 8612
31
Levobupivacaine Approved, Investigational Phase 4,Phase 3 27262-47-1 92253
32
Procaine Approved, Investigational, Vet_approved Phase 4,Not Applicable,Early Phase 1 59-46-1 4914
33
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 51-43-4 5816
34
Ketorolac Approved Phase 4,Phase 2,Phase 3,Not Applicable 74103-06-3, 66635-83-4 3826
35
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 329-65-7 838
36
Ropivacaine Approved Phase 4,Phase 3,Phase 1,Not Applicable 84057-95-4 71273 175805
37
Nifedipine Approved Phase 4,Phase 1,Not Applicable 21829-25-4 4485
38
Budesonide Approved Phase 4,Phase 3,Phase 2 51333-22-3 63006 5281004
39
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
40
Timolol Approved Phase 4,Phase 3,Phase 2 26839-75-8 33624 5478
41
Clonidine Approved Phase 4,Phase 3,Phase 2,Not Applicable 4205-90-7 2803
42
Spironolactone Approved Phase 4,Phase 3 1952-01-7, 52-01-7 5833
43
Drospirenone Approved Phase 4,Phase 3,Phase 2 67392-87-4 68873
44
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
45 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 979-32-8
46
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-63-6 5991
47
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
48
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 136470-78-5 65140 441300
49
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3 154598-52-4 64139
50
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 134678-17-4 60825

Interventional clinical trials:

(show top 50) (show all 6950)
# Name Status NCT ID Phase Drugs
1 Prehypertension and Dietary Supplements - The PYRAMIDS Study Unknown status NCT01682291 Phase 4
2 Substitution of First Phase Insulin Response in Patient With Type 2 Diabetes. Unknown status NCT00254085 Phase 4 Insulin Aspart
3 The Comparison of Oxytocin Induced Labor and Cook Balloon Induced Labor Unknown status NCT02202083 Phase 4
4 Study of Cefditoren Pivoxil in Treatment of Childhood With Acute Rhinosinusitis Unknown status NCT01553006 Phase 4 cefditoren pivoxil
5 IV Paracetamol vs IV Morphine vs Placebo in Sciatalgia Unknown status NCT02504996 Phase 4 Paracetamol;morphine;Placebo
6 Effect of Rosuvastatin Therapy on HDL2 Level Unknown status NCT02593487 Phase 4 Rosuvastatin 10mg/d group;Rosuvastatin 20mg/d group
7 Effect of Different Mouthrinses in Plaque Formation Unknown status NCT02695901 Phase 4 Chlorhexidine gluconate 0.12% (PerioGard®);Nanoparticle solution of M. alternifolia oil (0.3%).
8 Curcumin Addition to Antipsychotic Treatment in Chronic Schizophrenia Patients Unknown status NCT02298985 Phase 4 Curcumin;placebo
9 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4 metformin and sitagliptin;insulin glargine and insulin lispro;metformin and sitagliptin;insulin glargine and insulin lispro
10 The Effect of a Higher Dose of Dehydroepiandrosterone (DHEA) Supplementation in Poor Responders Unknown status NCT02357472 Phase 4 dehydroepiandrosterone
11 Effect of Acute Hyperglycemia on Renal Tissue Oxygenation Unknown status NCT02346149 Phase 4
12 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
13 Pharmacodynamic Effects of Atorvastatin vs. Rosuvastatin on Platelet Reactivity Unknown status NCT01567774 Phase 4 Atorvastatin;Rosuvastatin
14 PharmacOdynamic compaRison of piTavastatin Versus atOrvastatin on Platelet Reactivity Unknown status NCT01648829 Phase 4 Atorvastatin;Pitavastatin
15 Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
16 Physical Activity and ARTs Unknown status NCT01892111 Phase 4
17 Vaccine Responses in Infants After Acellular Pertussis Vaccination During Pregnancy in Thailand Unknown status NCT02408926 Phase 4
18 Determination of Vitamin D Dose to Maintain Sufficiency Amongst Indian and Malay Women in the Tropics Unknown status NCT02389179 Phase 4 Vitamin D3
19 Smoking Cessation Treatment for Methadone Maintenance Patients Unknown status NCT01027754 Phase 4 Varenicline;Placebo
20 Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:A Randomized Controlled Trial Unknown status NCT00196703 Phase 4 memantine
21 Telaprevir in Genotype 3 HCV Unknown status NCT02087111 Phase 4 Telaprevir;40 Kd Pegylated interferon alfa 2a;Ribavirin
22 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
23 Targeted Indoor Residual Spraying Against Malaria Unknown status NCT02556242 Phase 4
24 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
25 Positron Emission Tomography (PET)/Computed Tomography (CT) and Roentgen in Lung Cancer: Evaluation of Patients in General Practice Unknown status NCT00675168 Phase 4
26 Relationship Between Initial Plaque Characteristics and Stent Surface Coverage Patterns Unknown status NCT01024179 Phase 4
27 Herbal Alternatives for Menopause Symptoms (HALT Study) Unknown status NCT00169299 Phase 4 Black cohosh;Multibotanical preparation;Multibotanical preparation + dietary soy counseling;Conjugated equine estrogen +/- medroxyprogesterone acetate
28 Determination of the Minimum Local Analgesic Dose of Spinal Chloroprocaine in Labour Unknown status NCT01909089 Phase 4 Spinal administration of chloroprocaine.
29 Postoperative Pain Relief Following Total Hip Arthroplasty. A Comparison Between Intrathecal Morphine (IM) and Local Infiltration Analgesia (LIA) Unknown status NCT01281891 Phase 4 LIA;I/T morphine
30 Nifedipine Pharmacokinetics and Pharmacodynamics When Used as a Tocolytic in Acute Threatened Preterm Labour Unknown status NCT02068404 Phase 4 Nifedipine
31 Treatment Efficacy of Budesonide/Formoterol in Cough Variant Asthma and Typical Asthma Patients Unknown status NCT02934945 Phase 4 budesonide 160μg/formoterol 4.5μg
32 Safety and Efficacy of Intradermal Trivalent Influenza Vaccination in Institutionalized Older Adults Unknown status NCT01967368 Phase 4 Intanza;Vaxigrip
33 Acupuncture for Sedation in the Intensive Care Unit (ICU) Unknown status NCT01362270 Phase 4
34 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
35 Conservative Versus Aggressive Discectomy for Primary Disc Herniation With Radiculopathy Unknown status NCT01204008 Phase 4
36 Resistant Hypertension Optimal Treatment Unknown status NCT01643434 Phase 4 Spironolactone;Clonidine
37 Transcranial Magnetic Stimulation for Apathy in Mild Cognitive Impairment:Pilot Study Unknown status NCT02190019 Phase 4
38 Comparison of Body Weight Change During Contraception With Belara and Yasmin Unknown status NCT01608698 Phase 4 30 mcg ethinylestradiol/2 mg chlormadinone acetate;30 mcg ethinylestradiol/3 mg drospirenone
39 Safety and Effectiveness of TRIZIVIR (Abacavir/Lamivudine/Zidovudine) With Efavirenz in HIV-Infected Patients Who Have Never Taken Anti-HIV Drugs Unknown status NCT00011895 Phase 4 Abacavir sulfate, Lamivudine and Zidovudine;Efavirenz
40 Management of Chronic Pain in Military Patients With Injuries Sustained During Active Duty Unknown status NCT01616342 Phase 4
41 Physiologic Effects of PRMS & Testosterone in the Debilitated Elderly Completed NCT00018356 Phase 4 testosterone
42 Telemedicine Outreach for Post Traumatic Stress in CBOCs Completed NCT00821678 Phase 4
43 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
44 Facilitating the Adoption of Evidence-Based Depression Management in Substance Use Treatment Programs Completed NCT00137306 Phase 4
45 Randomized Isoflurane and Sevoflurane Comparison in Cardiac Surgery Completed NCT01477151 Phase 4 Volatile anesthetic
46 Warfarine in Unexplained Oligohydramnios Completed NCT01569035 Phase 4 warfarin
47 Influenza Vaccination for Parents and Other Caregivers in the Pediatric Medical Home Completed NCT00812110 Phase 4 Influenzae vaccine
48 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
49 Effect of Electronic Cigarette Use on Cough Reflex Sensitivity Completed NCT02203162 Phase 4
50 Etomidate vs. Midazolam for Sedation During ERCP Completed NCT02027311 Phase 4 Etomidate;Midazolam;Meperidine

Search NIH Clinical Center for Spastic Diplegia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: cerebral palsy

Genetic Tests for Spastic Diplegia

Genetic tests related to Spastic Diplegia:

# Genetic test Affiliating Genes
1 Spastic Diplegia 29

Anatomical Context for Spastic Diplegia

MalaCards organs/tissues related to Spastic Diplegia:

41
Lung, Heart, Brain, Testes, Prostate, Bone, Kidney

Publications for Spastic Diplegia

Articles related to Spastic Diplegia:

(show top 50) (show all 223)
# Title Authors Year
1
Bilateral Bicondylar Osteochondritis Dissecans in a Child with Spastic Diplegia and Crouch Gait: A Case Report. ( 29952775 )
2018
2
Evaluation of independent versus integrated effects of reciprocal electrical stimulation and botulinum toxin-A on dynamic limits of postural stability and ankle kinematics in spastic diplegia: a single-blinded randomized trial. ( 29904047 )
2018
3
Dorsal rhizotomy for children with spastic diplegia of cerebral palsy origin: usefulness of intraoperative monitoring. ( 29652243 )
2018
4
A Comparison of Spastic Diplegia in Term and Preterm-Born Children. ( 29464974 )
2018
5
Evolution of gait in adolescents and young adults with spastic diplegia after selective dorsal rhizotomy in childhood: A 10 year follow-up study. ( 29894977 )
2018
6
Attenuation of temporal correlations of neuronal oscillations in patients with mild spastic diplegia. ( 29097718 )
2017
7
Selective dorsal rhizotomy: A multidisciplinary approach to treating spastic diplegia. ( 28761524 )
2017
8
How multi segmental patterns deviate in spastic diplegia from typical developed. ( 28806590 )
2017
9
Phenol Versus Botulinum Toxin A Injection in Ambulatory Cerebral Palsy Spastic Diplegia: A Comparative Study. ( 29675072 )
2017
10
Spastic diplegia in preterm-born children: Executive function impairment and neuroanatomical correlates. ( 28073076 )
2017
11
Regional anesthesia for a total knee arthroplasty on an adult patient with spastic diplegia and an intrathecal baclofen pump. ( 28913502 )
2017
12
Intramuscular psoas lengthening during single-event multi-level surgery fails to improve hip dynamics in children with spastic diplegia. Clinical and kinematic outcomes in the short- and medium-terms. ( 27050557 )
2016
13
Altered Resting-State EEG Microstate Parameters and Enhanced Spatial Complexity in Male Adolescent Patients with Mild Spastic Diplegia. ( 27640158 )
2016
14
Effects of Soft Tissue Surgery on Pelvic and Hip Rotation in Patients with Spastic Diplegia: A Meta-Analysis. ( 27247745 )
2016
15
Correlation between transverse plan kinematics and foot progression angle in children with spastic diplegia. ( 27902635 )
2016
16
Research of the spatial-temporal gait parameters and pressure characteristic in spastic diplegia children. ( 27405783 )
2016
17
Impact of loaded sit-to-stand exercises at different speeds on the physiological cost of walking in children with spastic diplegia: A single-blind randomized clinical trial. ( 27394691 )
2016
18
Real-time feedback of dynamic foot pressure index for gait training of toe-walking children with spastic diplegia. ( 27558231 )
2016
19
Effect of task-oriented training and high-variability practice on gross motor performance and activities of daily living in children with spastic diplegia. ( 27821947 )
2016
20
Relation of selective voluntary motor control of the lower extremity and extensor strength of the knee joint in children with spastic diplegia. ( 27390436 )
2016
21
The differential diagnosis of spastic diplegia. ( 25700542 )
2015
22
Patellar tendon shortening for flexed knee gait in spastic diplegia. ( 25701014 )
2015
23
Effects of the standing program with hip abduction on hip acetabular development in children with spastic diplegia cerebral palsy. ( 26517269 )
2015
24
Plasma Tumor Necrosis Factor-alpha (TNF-I+) Levels Correlate with Disease Severity in Spastic Diplegia, Triplegia, and Quadriplegia in Children with Cerebral Palsy. ( 26656070 )
2015
25
Selective dorsal rhizotomy for spastic diplegia secondary to stroke in an adult patient. ( 26167363 )
2015
26
Delayed finger tapping and cognitive responses in preterm-born male teenagers with mild spastic diplegia. ( 25693583 )
2015
27
Keyhole interlaminar dorsal rhizotomy for spastic diplegia in cerebral palsy. ( 26002713 )
2015
28
Communication skills in individuals with spastic diplegia. ( 26107078 )
2015
29
Effects of trunk-hip strengthening on standing in children with spastic diplegia: a comparative pilot study. ( 26157214 )
2015
30
Comparison of children with joint angles in spastic diplegia with those of normal children. ( 25276040 )
2014
31
Altered trunk movements during gait in children with spastic diplegia: compensatory or underlying trunk control deficit? ( 24864057 )
2014
32
A Descriptive Study of Lower Limb Torsional Kinematic Profiles in Children With Spastic Diplegia. ( 25333905 )
2014
33
Ankle-foot orthoses management in children with spastic diplegia: re: day vs. day-night use of ankle-foot orthoses in young children with spastic diplegia. ( 24658426 )
2014
34
Correlations between gross motor functions and health-related quality of life in Thai children with spastic diplegia. ( 25518314 )
2014
35
Sit-to-stand movement changes in preschool-aged children with spastic diplegia following one neurodevelopmental treatment session - a pilot study. ( 25327772 )
2014
36
Electrical Stimulation Following Botulinum Toxin A in Children With Spastic Diplegia: A Within-Participant Randomized Pilot Study. ( 25529410 )
2014
37
Three-dimensional head and trunk movement characteristics during gait in children with spastic diplegia. ( 23597939 )
2013
38
Full body gait analysis may improve diagnostic discrimination between hereditary spastic paraplegia and spastic diplegia: a preliminary study. ( 23085499 )
2013
39
Spastic diplegia in children with HIV encephalopathy: first description of gait and physical status. ( 24182356 )
2013
40
Long term outcome of single event multilevel surgery in spastic diplegia with flexed knee gait. ( 23041270 )
2013
41
Long-term effects after conversion of biarticular to monoarticular muscles compared with musculotendinous lengthening in children with spastic diplegia. ( 23018029 )
2013
42
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia. ( 23121133 )
2013
43
Reliability of head and trunk kinematics during gait in children with spastic diplegia. ( 23062729 )
2013
44
Short-term effects of proximal femoral derotation osteotomy on kinematics in ambulatory patients with spastic diplegia. ( 23531549 )
2013
45
Day vs. day-night use of ankle-foot orthoses in young children with spastic diplegia: a randomized controlled study. ( 23739274 )
2013
46
Effects of vojta therapy on gait of children with spastic diplegia. ( 24409030 )
2013
47
The impacts of hinged and solid ankle-foot orthoses on standing and walking in children with spastic diplegia. ( 24665312 )
2013
48
Distal rectus femoris transfer as part of multilevel surgery in children with spastic diplegia--a randomized clinical trial. ( 22425637 )
2012
49
Kinematic and electromyographic studies on unaided, unilateral and bilateral crutch walking in adolescents with spastic diplegia. ( 22130909 )
2012
50
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. ( 21934608 )
2012

Variations for Spastic Diplegia

ClinVar genetic disease variations for Spastic Diplegia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEPSECS NM_016955.3(SEPSECS): c.1027_1120del94 (p.Glu343Leufs) deletion Likely pathogenic GRCh38 Chromosome 4, 25127264: 25127357
2 SEPSECS NM_016955.3(SEPSECS): c.1027_1120del94 (p.Glu343Leufs) deletion Likely pathogenic GRCh37 Chromosome 4, 25128886: 25128979
3 46;XY;t(10;14)(p13;q32.1)dn Translocation Uncertain significance
4 SPAST NM_014946.3(SPAST): c.1276C> T (p.Leu426Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs1060502227 GRCh38 Chromosome 2, 32136593: 32136593
5 SPAST NM_014946.3(SPAST): c.1276C> T (p.Leu426Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs1060502227 GRCh37 Chromosome 2, 32361662: 32361662

Expression for Spastic Diplegia

Search GEO for disease gene expression data for Spastic Diplegia.

Pathways for Spastic Diplegia

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 9.02 ALDH3A2 RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
2 endoplasmic reticulum tubular network GO:0071782 8.96 RAB18 RAB3GAP1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.54 RAB3GAP1 RAB3GAP2 TBC1D20
2 regulation of GTPase activity GO:0043087 9.43 RAB3GAP1 RAB3GAP2
3 camera-type eye development GO:0043010 9.4 RAB3GAP1 TBC1D20
4 positive regulation of autophagosome assembly GO:2000786 9.32 RAB3GAP1 RAB3GAP2
5 positive regulation of protein lipidation GO:1903061 9.26 RAB3GAP1 RAB3GAP2
6 positive regulation of endoplasmic reticulum tubular network organization GO:1903373 9.16 RAB3GAP1 RAB3GAP2
7 establishment of protein localization to endoplasmic reticulum membrane GO:0097051 8.96 RAB3GAP1 RAB3GAP2
8 lipid particle organization GO:0034389 8.8 RAB18 RAB3GAP1 TBC1D20

Molecular functions related to Spastic Diplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.16 RAB3GAP1 RAB3GAP2
2 GTPase activator activity GO:0005096 9.13 RAB3GAP1 RAB3GAP2 TBC1D20
3 Rab GTPase binding GO:0017137 8.8 RAB3GAP1 RAB3GAP2 TBC1D20

Sources for Spastic Diplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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