Mild Hypotonia: Causes & Reasons

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Possible Causes for Mild Hypotonia

Autosomal Dominant Mental Retardation Type 5

Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis. [kundoc.com]

[…] and hypotonia, and a dysmorphic facies: (flat profile, mild ptosis, short nose with a large tip and anteverted nares, narrow mouth ,very large, backward tilted ears, with [sonoworld.com]

Intention tremor Dysdiadochokinesis Muscular hypotonia Optic atrophy Strabismus Rare Symptoms - Less than 30% cases Abnormality of metabolism/homeostasis Skeletal muscle [mendelian.co]

Neuhauser Eichner Opitz Syndrome

Symptoms of Neuhauser Eichner Opitz syndrome Symptoms : The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms Hypertonia ... ...[…] [familydiagnosis.com]

Joubert Syndrome Type 4

Nemaline Myopathy Type 5

In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. [unboundmedicine.com]

Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips; proximal contractures progressively weaken and a pectus carinatum develops [medical-dictionary.thefreedictionary.com]

2-Aminoadipic 2-Oxoadipic Aciduria

Except for mild muscular hypotonia, neurological examination was normal. [mafiadoc.com]

developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. [orpha.net]

[…] muscular hypotonia Although both individuals carried one predicted loss-of-function allele, the effects of the shared missense mutation on DHTKD1 activity were unclear. [ncbi.nlm.nih.gov]

2-Methylbutyryl-CoA Dehydrogenase Deficiency

Except for 1 patient who developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age. Conclusions. [experts.umn.edu]

Except for 1 patient who developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age. [ncbi.nlm.nih.gov]

Congenital Disorder of Glycosylation Type 2I

hypotonia. [ncbi.nlm.nih.gov]

[…] glycoprotein syndrome with clinical characteristics in the single reported case to date of moderate mental retardation with slow and inarticulate speech, truncal ataxia and mild [ncbi.nlm.nih.gov]

Joubert Syndrome Type 14

Neurological examination revealed (1) cognitive impairment, (2) oculomotor apraxia, (3) abnormal cancellation of vestibular ocular reflex, (4) mild ataxia and (5) mild hypotonia [casereports.bmj.com]

The second reported family included an affected subject having a mild form of JBTS phenotype characterized by hypotonia, DD, ataxia, oculomotor apraxia, nystagmus and bilateral [bmcpediatr.biomedcentral.com]

Affected members displayed a homozygous inactivating variant and a mild form of JBTS phenotype including global DD with variable hypotonia, transient tachypnea, variable cerebellar [bmcpediatr.biomedcentral.com]

Congenital Disorder of Glycosylation Type 1H

His psychomotor development is within normal limits but shows mild hypotonia. [nature.com]

While muscle hypotonia can lead to secondary delays in motor skill acquisition, in the view of the frequent occurrence of microcephaly, the main contributor to the mild–moderate [nature.com]

[…] delay (she can only walk with support and use five words), and she demonstrates a significant muscle hypotonia and cutis laxa. [nature.com]

Lujan-Fryns Syndrome

[…] general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies [bioportal.bioontology.org]

[…] general hypotonia and mild to moderate cognitive deficits with several behavioural problems. [scielo.mec.pt]

Lujan-Fryns Syndrome Mental retardation, X-linked, with marfanoid habitus X-Linked Intellectual Deficit with Marfanoid Habitus XLMR with Marfanoid Features Marfanoid habitus, mild [bioportal.bioontology.org]

Chromosome 22q13.3 Deletion Syndrome

It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. [genome.jp]

Many children will have facial hypotonia, mild periorbital fullness, long eyelashes, full cheeks, and smoothing of the philtrum. Fig. 2 Dysplastic toenails. [pubmed.ncbi.nlm.nih.gov]

Complex Cortical Dysplasia with other Brain Malformations Type 1

[…] to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. [rarediseases.info.nih.gov]

[…] to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild [rarediseases.info.nih.gov]

Partial Monosomy 7p

Etiology The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports [orpha.net]

15q24 Deletion Syndrome

hypotonia enlarged ventricles mental retardation seizures (rare) more Neurologic Behavioral Psychiatric Manifestations: hyperactivity autistic features aggression attention [malacards.org]

Motor delay, most likely related to the degree of hypotonia, is mild to moderate in most. Speech and cognitive deficits are generally more severe. [ncbi.nlm.nih.gov]

He has short stature and relatively mild intellectual disability with good language skills as an adult [1]. [ojrd.biomedcentral.com]

Variants of Klinefelter Syndrome

If there are no genital or skeletal alterations, the first symptoms appear after 18 months of age, with mild hypotonia in 75% of cases. [scielo.conicyt.cl]

Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. [medlineplus.gov]

Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing [medlineplus.gov]

Monosomy 9p

Patient 1, of Portuguese origin, was born to unrelated parents and presented at birth with a normal somatic phenotype and clitoridomegalia, mild hypotonia, and a left clubfoot [cell.com]

Neonatal Hypotonia

mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, [orpha.net]

' is still used to describe children with mild hypotonia who appear to have a favourable outcome and in whom no other diagnosis can at this stage be made. [patient.info]

Homepage Rare diseases Search Search for a rare disease Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Disease definition Short ulna-dysmorphism-hypotonia-intellectual [orpha.net]

Nemaline Myopathy Type 8

Among the 28 patients, 15 presented mild hypotonia and chronic limb weakness during the neonatal period, with delayed motor milestone in a few cases. [spandidos-publications.com]

Typically, patients present with nonprogressive limb weakness, mild facial weakness, and hypotonia. [emedicine.medscape.com]

Although muscle weakness and hypotonia occur during the neonatal period, these patients often improve strength with age and lead an independent life. [spandidos-publications.com]

Subcortical Band Heterotopia

[…] muscular hypotonia, generalized seizures, and mild mental retardation. [ncbi.nlm.nih.gov]

[…] mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild [ncbi.nlm.nih.gov]

Bruce-Winship Syndrome

Some hypermobile children experience developmental dyspraxia (or developmental coordination disorder), manifesting with mild hypotonia and non‐specific developmental delay [onlinelibrary.wiley.com]

Hypotonia-Failure to Thrive-Microcephaly Syndrome

[…] axial hypotonia, mild psychomotor developmental delay, speech problems, patent ductusarteriosus, Legg–Calvé–Perthes disease p15.3 p15.1 22565194 Edit 19 2260606 46, XX, t [chr7.org]

The patient showed mild psychomotor retardation, predominantly motor, with hypotonia. [analesdepediatria.org]

DD, hypotonia, atrial septal defect 3, 4 20 2 yr 1 m M 5q23.2q23.3(126540520_128636176)×1 2 Mb MEGF10, PRRC1, CTXN3, FLJ33630, SLC12A2, FBN2, SLC27A6, ISOC1 VOUS Paternal [eymj.org]

Glycogen Storage Disease Type 6

These children may also have histories of mild fasting hypoglycemia and hypotonia. [humpath.com]

[…] fasting hypoglycemia, hypotonia, and delayed motor milestones in early childhood. [emedicine.medscape.com]

Adult patients may have mild or no hepatomegaly. Delay in motor milestones may be noted in a young child, and mild hypotonia and muscle weakness may be present. [humpath.com]

Joubert Syndrome Type 10

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. [scielo.br]

Congenital Disorder of Glycosylation Type 2G

Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. [malacards.org]

Joubert Syndrome Type 5

Mental retardation varied from profound to mild, and no respiratory abnormality was reported. [scielo.br]

In all patients, it was present hypotonia, ataxia and developmental delay of variable intensity. [scielo.br]

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

ranging from severe and present from birth, to mild and later-onset Bowing of limbs Other symptoms include:[3][5] Skin hyperextensibility; soft, doughy skin; thin, translucent [rarediseases.info.nih.gov]

Ehlers-Danlos syndrome include:[5][1][6][2][3] Progressive short stature in childhood, which can result in short stature as an adult (less than 152cm) Poor muscle tone (hypotonia [rarediseases.info.nih.gov]

Complex Cortical Dysplasia with other Brain Malformations Type 4

Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. [malacards.org]

Affected individuals are characterized by a mild to severe mental retardation, strabismus, axial hypotonia, and spasticity (muscle stiffness). [amplexa.com]

This disorder presents with mild hypotonia, mild ocular anomalies, and developmental delay. [ajnr.org]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 3

[…] intellectual disability, severely reduced muscle tone (hypotonia ), impaired reflexes, vision impairment, and involuntary eye movements. [rarediseases.info.nih.gov]

Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord.[1] Affected individuals have mild to severe [rarediseases.info.nih.gov]

Primary Hypomagnesemia with Secondary Hypocalcemia

hypotonia and recurrent seizures in an 8-month-old boy: Answers Sare Gülfem Özlü, Cigdem Seher Kasapkara, Serdar Ceylaner, Meryem Erat Nergız, Başak Alan, Songül Yılmaz & [doi.org]

Potter & Andreas Lückhoff Scientific Reports (2019) Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers Sare Gülfem Özlü, Cigdem Seher Kasapkara, Serdar Ceylaner [nature.com]

Physiology (2019) The role of magnesium in different inflammatory diseases Abbas Shahi, Saeed Aslani, MohammadReza Ataollahi & Mahdi Mahmoudi Inflammopharmacology (2019) Mild [doi.org]

Colpocephaly

birth feeding problems 3y; no eczema (-HP:0000964); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); mild speech delay (HP: [databases.lovd.nl]

SMARCE1 SMARCA2, SMARCA4, SMARCB1 7 1 Gijs Santen 00001505 - - - F - - - - - - - CSS brith 37w, weight SD -1; Psoriasis, twin brother; myopia severe -18D (HP:0011003); hypotonia [databases.lovd.nl]

Truncal hypotonia; seizures onset 2y, 2 per month; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); focal seizures (HP:0007359); no growth abnormality [databases.lovd.nl]