Infantile Onset Causes & Reasons

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Infantile Onset Symptom Checker: Possible causes include Spinocerebellar Ataxia Type 5. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Spinocerebellar Ataxia Type 5

The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C T at nucleotide position 1438), the proband [ncbi.nlm.nih.gov]

Case of infantile onset spinocerebellar ataxia type 5. Jacob F.D., Ho E.S., Martinez-Ojeda M., Darras B.T., Khwaja O.S. [uniprot.org]

Panel Description This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Infantile-onset [fulgentgenetics.com]

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Infantile-Onset Ascending Hereditary Spastic Paralysis

IAHSP stands for "Infantile-onset ascending hereditary spastic paralysis" How to abbreviate Infantile-onset ascending hereditary spastic paralysis? [allacronyms.com]

Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. [ncbi.nlm.nih.gov]

IAHSP infantile-onset ascending hereditary spastic paraplegia infantile onset ascending spastic paralysis Eker HK, Unlü SE, Al-Salmi F, Crosby AH. [ghr.nlm.nih.gov]

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Juvenile Primary Lateral Sclerosis

Differential diagnosis Differential diagnoses include the allelic disorders juvenile amyotrophic lateral sclerosis and infantile-onset ascending hereditary spastic paralysis [orpha.net]

Glossary ALS amyotrophic lateral sclerosis ; AR autosomal recessive ; bp base pair ; CMAP compound muscle action potential amplitudes ; IAHSP infantile-onset ascending hereditary [neurology.org]

Disease Type of connection Autosomal recessive spastic paraplegia type 18 Infantile-onset ascending hereditary spastic paralysis Juvenile amyotrophic lateral sclerosis Recessive [csbg.cnb.csic.es]

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Alexander Disease

We present a child who was considered to have an infantile onset mitochondrial disorder due to a combination of neurological symptoms and signs (developmental regression, [ncbi.nlm.nih.gov]

We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary [ncbi.nlm.nih.gov]

The neurological deterioration was mild and appeared relatively late for infantile onset. [ncbi.nlm.nih.gov]

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Neuronal Ceroid Lipofuscinosis

The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses [ncbi.nlm.nih.gov]

Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset [ncbi.nlm.nih.gov]

onset results from missense mutations in CLN2 that cause atypical onset and clinical symptoms. 7 NCL with late infantile onset has been reported to be common in the population [doi.org]

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Glycogen Storage Disease Type 2

These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset. [ghr.nlm.nih.gov]

Three major forms of GSD II are recognized: classic infantile-onset, non-classic variant of infantile-onset, and late-onset (includes childhood, juvenile, and adult-onset) [emedicine.medscape.com]

The non-classic form of infantile-onset Pompe disease usually appears by age 1. [ghr.nlm.nih.gov]

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CINCA Syndrome

[…] neurological cutaneous articular syndrome Prieur-Griscelli syndrome infantile-onset multisystem inflammatory disease cryopyrin-associated periodic syndrome 3 IOMID syndrome [wikidata.org]

This syndrome is known in the American medical literature as infantile onset multisystem inflammatory disease (IOMID). [ncbi.nlm.nih.gov]

Heritability: Autosomal dominant inheritance AKA: chronic infantile neurological cutaneous and articular syndrome, infantile-onset multisystem inflammatory disease, IOMID [monarchinitiative.org]

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Kohlschütter-Tönz Syndrome

onset epilepsy, intellectual disability with or without regression and dementia. [orpha.net]

[…] syndrome Disease definition Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile [orpha.net]

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X-linked Distal Spinal Muscular Atrophy Type 3

Characteristics of spinal muscular atrophy (age at onset) 0-6 MONTHS (infantile-onset) 0-6 MONTHS (infantile-onset) 1,2,4,5 Highest motor milestone achieved UNABLE TO SIT [togetherinsma-hcp.com]

onset What are some of the implications for Acute Childhood SMA / Infantile onset (Type 1 SMA)? [quizlet.com]

SMA type 1 (also called infantile onset or Werdnig-Hoffmann disease) The age of onset for SMA type 1 (also called infantile onset or Werdnig-Hoffmann disease) is birth to [betterhealth.vic.gov.au]

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Familial Infantile Myoclonic Epilepsy

We report on the electro-clinical features of two brothers, born to first-cousin parents, affected with infantile-onset myoclonic epilepsy. [ncbi.nlm.nih.gov]

Mayo Clinic Video Asset: Neonatal and Infantile Onset Epilepsy Seizures beginning during first weeks of life: Benign neonatal and benign infantile epilepsies. [epilepsyfoundationmn.org]

ORPHA:352582 Synonym(s): FIME Familial infantile myoclonus epilepsy Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: G40.3 OMIM: 605021 [orpha.net]

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Muscular Atrophy

Newborns and infants can develop infantile-onset SMA, the most severe form of the disease, which may lead to paralysis and prevent infants from performing the basic functions [biogen.com]

Spinraza was approved for individuals with infantile-onset spinal muscular atrophy by Japan in June 2017. [sandiegouniontribune.com]

Type I (also known as Werdnig-Hoffman disease, or infantile-onset SMA) is evident at birth or within the first few months. [ninds.nih.gov]

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Distal Spinal Muscular Atrophy Type 3

Non-classic variant of infantile-onset disease may present with slowly progressive muscle weakness, motor development delay,and they may died due to respiratory failure in [explainmedicine.com]

onset What are some of the implications for Acute Childhood SMA / Infantile onset (Type 1 SMA)? [quizlet.com]

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Mitochondrial DNA Depletion Syndrome

Little Charlie Gard has a rare condition called infantile onset encephalomyopathic mitochondrial DNA depletion syndrome or MDDS. [thepapertrailnews.com]

Spinocerebellar Ataxia, Infantile-Onset Clinical Characteristics Ocular Features: Ocular problems begin by about age 7 years when various degrees of ophthalmoplegia appear [disorders.eyes.arizona.edu]

An autosomal recessive disorder (OMIM:612073) characterised by infantile-onset hypotonia, neurologic deterioration, a hyperkinetic-dystonia, external ophthalmoplegia, deafness [medical-dictionary.thefreedictionary.com]

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Globoid Cell Leukodystrophy

Here, we study mutations that cause infantile or later-onset GLD, and show that GALC activity is significantly lower in infantile versus later-onset mutants when measured [ncbi.nlm.nih.gov]

Krabbe disease is an infantile-onset progressive leukodystrophy. [ncbi.nlm.nih.gov]

Krabbe disease can be divided according to the age of onset into two or three forms depending on the author 2,3,5 : infantile form (85-90%): rapidly progressive usual onset [radiopaedia.org]

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Metachromatic Leukodystrophy

Overall, children with juvenile onset had better outcomes than those with late-infantile onset. [ncbi.nlm.nih.gov]

In all, 7 patients, 4 with late infantile-onset and 3 with juvenile-onset disease, developed recurrent seizures. [ncbi.nlm.nih.gov]

A late-infantile (onset before 3 years of age), a juvenile form (onset before 16 years) and an adult form are usually distinguished. [ncbi.nlm.nih.gov]

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Benign Familial Infantile Epilepsy Type 4

Here, we report the case of an infant and her father with early onset benign familial infantile epilepsy, but without cognitive or neurological impairment. [ncbi.nlm.nih.gov]

Seizures with onset within the first month of age were defined neonatal, infantile when above the first month of age. [onlinelibrary.wiley.com]

With benign familial infantile epilepsy, the seizures onset from four to eight months of age.[2] Some cases of nonfamilial benign infantile seizures occur during a case of [en.wikipedia.org]

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Early Infantile Epileptic Encephalopathy Type 6

Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. [ncbi.nlm.nih.gov]

Abstract Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A. [ncbi.nlm.nih.gov]

BACKGROUND: Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding [ncbi.nlm.nih.gov]

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Adult Spinal Muscular Atrophy

The efficacy of Spinraza was demonstrated in a clinical trial in 121 patients with infantile-onset SMA who were diagnosed before 6 months of age and who were less than 7 months [news-medical.net]

[…] difficult to interpret than the controlled study, but the findings appeared generally supportive of the clinical efficacy demonstrated in the controlled clinical trial in infantile-onset [news-medical.net]

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Distal Spinal Muscular Atrophy Type 5

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. [journals.plos.org]

There is a wide range of severity within CMT1B, from very severe, infantile onset to milder cases with onset much later in life. [cmtausa.org]

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Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. [disorders.eyes.arizona.edu]

Get Update Overview Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. [diseaseinfosearch.org]

Title Other Names: SCAR6; Cerebellar ataxia infantile nonprogressive autosomal recessive; Norwegian infantile onset ataxia Categories: This disease is grouped under: This [rarediseases.info.nih.gov]

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Spinal Muscular Atrophy Type 4

Characteristics of spinal muscular atrophy (age at onset) 0-6 MONTHS (infantile-onset) 0-6 MONTHS (infantile-onset)1,2,4,5 Highest motor milestone achieved UNABLE TO SIT [togetherinsma-hcp.com]

onset What are some of the implications for Acute Childhood SMA / Infantile onset (Type 1 SMA)? [quizlet.com]

The four types of SMA are categorized by the disease's severity and the age when symptoms begin: Type I, sometimes called infantile onset SMA or Werdnig-Hoffmann disease. [kidshealth.org]

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Spinal Muscular Atrophy Type 2

Characteristics of spinal muscular atrophy (age at onset) 0-6 MONTHS (infantile-onset) 0-6 MONTHS (infantile-onset)1,2,4,5 Highest motor milestone achieved UNABLE TO SIT [togetherinsma-hcp.com]

Each begins at a different age for patients: Type 1: (Werdnig-Hoffmann SMA): Also called infantile-onset SMA. A child with this type often has symptoms just after birth. [nm.org]

The four types of SMA are categorized by the disease's severity and the age when symptoms begin: Type I, sometimes called infantile onset SMA or Werdnig-Hoffmann disease. [kidshealth.org]

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Leukodystrophy

ISCA2 plays a role in the biogenesis of Fe-S clusters and a recent report described subjects displaying infantile-onset leukodystrophy due to bi-allelic mutation of ISCA2. [ncbi.nlm.nih.gov]

Two types based on the age of onset are recognized: infantile-onset krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, [icd9data.com]

Clinical features varied widely, ranging from fatal infantile onset of the disease to acute and severe psychomotor regression after the first year of life. [ncbi.nlm.nih.gov]

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Distal Spinal Muscular Atrophy Type 4

[…] pathological examination of the spinal cord we found ballooned neurons, neuronophagia and gliosis in family A, which have been regarded as characteristic pathological features of infantile-onset [link.springer.com]

Funded by the NIH • Developed at the University of Washington, Seattle [Includes: Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis, Infantile-Onset Ascending Hereditary [cmm.ucsd.edu]

Disease progression was rapid, and the majority of patients died from respiratory failure within 1–5 years after onset of disease. [link.springer.com]

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Spinal Muscular Atrophy Type 1

onset What are some of the implications for Acute Childhood SMA / Infantile onset (Type 1 SMA)? [quizlet.com]

Type 1 (also known as Werdnig-Hoffman disease or infantile-onset SMA) is evident at birth or within the first few months. [secure.ssa.gov]

The four types of SMA are categorized by the disease's severity and the age when symptoms begin: Type I, sometimes called infantile onset SMA or Werdnig-Hoffmann disease. [kidshealth.org]

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GLUT1 Deficiency Syndrome

Clinical features usually comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly [ncbi.nlm.nih.gov]

GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may [ncbi.nlm.nih.gov]

The “classic” phenotype is severe and comprises infantile-onset epileptic encephalopathy, delayed development, acquired microcephaly, motor incoordination and spasticity. [medical-dictionary.thefreedictionary.com]

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Muscular Dystrophy-Dystroglycanopathy Type C7

[…] dystrophy, type 2S - (AR) 1.39 trafficking protein particle complex 11 * Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S * Congenital muscular dystrophy with fatty liver and infantile-onset [195.83.227.65]

onset spinocerebellar ataxia Intellectual disability-myopathy-short stature-endocrine defect syndrome Intermediate nemaline myopathy Intestinal polyposis syndrome Isolated [se-atlas.de]

[…] sensory and motor neuronopathy Brachydactyly type B Infantile convulsions and paroxysmal choreoathetosis, familial Maturity-onset diabetes of the young Chylous ascites Familial [checkrare.com]

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Spinal Muscular Atrophy

INTERPRETATION: These data of SMA and control outcome measures delineates meaningful change in clinical trials in infantile-onset SMA. [ncbi.nlm.nih.gov]

Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. [ncbi.nlm.nih.gov]

SMA caused by mutations in the SMN1 gene is generally classified into several subtypes, based on the age of onset and severity; infantile-onset SMA is the most severe and [fda.gov]

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Niemann-Pick Disease Type C

We describe the case of a 16-year-old white French boy with late-infantile-onset Niemann-Pick disease type C who had the unusual presentation of early-onset behavioral disturbance [ncbi.nlm.nih.gov]

Patient 1, a 7.5-year-old girl with early-infantile onset, began receiving miglustat at age 7 months. [ncbi.nlm.nih.gov]

A history of hepatosplenomegaly and/or other cholestatic symptoms was recorded in all 8 early-infantile onset patients, 3/8 late-infantile patients, and 1/3 juvenile onset [ncbi.nlm.nih.gov]

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Infantile Neuroaxonal Dystrophy

Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving [ncbi.nlm.nih.gov]

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia [ncbi.nlm.nih.gov]

Abstract Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder characterized by infantile onset of rapid motor and cognitive regression and hypotonia evolving [ncbi.nlm.nih.gov]

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