MCID: INF065
MIFTS: 23

Infantile Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Infantile Hypotonia

MalaCards integrated aliases for Infantile Hypotonia:

Name: Infantile Hypotonia 55

Classifications:



Summaries for Infantile Hypotonia

NINDS : 55 Hypotonia is a medical term used to describe decreased muscle tone.  Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement.  It is not the same as muscle weakness, although the two conditions can co-exist.  Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract.  Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles.  The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders.  For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease.  Sometimes it may not be possible to find what causes the hypotonia.  Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control.  Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes.  Hypotonia does not affect intellect.  The opposite of hypotonia is hypertonia.

MalaCards based summary : Infantile Hypotonia is related to hypotonia-speech impairment-severe cognitive delay syndrome and hypotonia. An important gene associated with Infantile Hypotonia is CCDC174 (Coiled-Coil Domain Containing 174). The drugs Coenzyme Q10 and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotype is Increased viability.

Related Diseases for Infantile Hypotonia

Graphical network of the top 20 diseases related to Infantile Hypotonia:



Diseases related to Infantile Hypotonia

Symptoms & Phenotypes for Infantile Hypotonia

GenomeRNAi Phenotypes related to Infantile Hypotonia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.02 ACADS AP4M1 MECP2 NALCN UNC80

Drugs & Therapeutics for Infantile Hypotonia

Drugs for Infantile Hypotonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
2 Ubiquinone Phase 3
3 Nutrients Phase 3
4 Trace Elements Phase 3
5 Vitamins Phase 3
6 Micronutrients Phase 3
7
Oxytocin Approved, Vet_approved Phase 1, Phase 2,Phase 2 50-56-6 439302 53477758
8 Oxytocics Phase 1, Phase 2,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Mitochondrial Complex I Dysfunction in PWS Not yet recruiting NCT03831425 Phase 3
2 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
3 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies Completed NCT01548521 Phase 1, Phase 2 Oxytocin
4 Myotubular Myopathy Event Study Completed NCT01840657
5 Eucapnic pH Compared With Arterial pH and Base Deficit Recruiting NCT03866876
6 Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma Recruiting NCT02584413 Not Applicable Gadolinium contrast
7 Evaluation of the Xen Implant in Glaucoma Surgery Recruiting NCT03733600
8 Causes of Peripheral Hypotonia in Assiut University Children Hospital Not yet recruiting NCT03857555

Search NIH Clinical Center for Infantile Hypotonia

Genetic Tests for Infantile Hypotonia

Anatomical Context for Infantile Hypotonia

MalaCards organs/tissues related to Infantile Hypotonia:

42
Brain, Spinal Cord, Skeletal Muscle

Publications for Infantile Hypotonia

Articles related to Infantile Hypotonia:

(show all 21)
# Title Authors Year
1
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). ( 29430593 )
2018
2
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. ( 29572195 )
2018
3
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. ( 30103036 )
2018
4
Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism. ( 24795558 )
2014
5
Infantile hypotonia with failure to thrive. ( 23569532 )
2012
6
Severe infantile hypotonia with ethylmalonic aciduria: case report. ( 18539996 )
2008
7
Infantile hypotonia as a presentation of Rett syndrome. ( 12210319 )
2002
8
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
9
Infantile hypotonia and paroxysmal dystonia: a variant of alternating hemiplegia of childhood? ( 8196689 )
1994
10
Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. ( 3738662 )
1986
11
Cerebral infantile hypotonia. A developmental study. ( 6507196 )
1984
12
The diagnostic value of electromyography in infantile hypotonia. ( 7148759 )
1982
13
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. ( 581546 )
1979
14
Folic acid deficiency: a reversible cause of infantile hypotonia. ( 722448 )
1978
15
A follow up study of infantile hypotonia of central origin: hypotonic cerebral palsy. ( 1052631 )
1976
16
Electron-microscope findings on the muscle from an atypical case of infantile hypotonia. ( 4795542 )
1973
17
Glycogenosis. IV. A new cause of infantile hypotonia. ( 4502299 )
1972
18
Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. ( 5815441 )
1969
19
NEUROLOGY GRAND ROUNDS: INFANTILE HYPOTONIA. ( 14346140 )
1965
20
INFANTILE HYPOTONIA: A CLINICAL STUDY. ( 14088333 )
1963
21
Differential diagnosis of infantile hypotonia. The use of the electromyograph and the developmental and neurologic examination as aids. ( 13789718 )
1961

Variations for Infantile Hypotonia

Expression for Infantile Hypotonia

Search GEO for disease gene expression data for Infantile Hypotonia.

Pathways for Infantile Hypotonia

GO Terms for Infantile Hypotonia

Biological processes related to Infantile Hypotonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 8.62 AP4M1 MECP2

Sources for Infantile Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....