Onset in Childhood: Causes & Reasons

Possible Causes for Onset in Childhood

There is progressive proximal muscle weakness and respiratory insufficiency without cardiac involvement in late-onset (i.e., childhood, juvenile, and adult-onset) Pompe disease [ncbi.nlm.nih.gov]

Symptoms can also begin later in life, during childhood or adulthood, and the disease is then known as late-onset Pompe. [pompediseasenews.com]

Diagnostic Criteria for Late-Onset (Childhood and Adult) Pompe Disease. [ncbi.nlm.nih.gov]

Paroxysmal Exertion-Induced Dyskinesia

onset GLUT1 deficiency syndrome type 2 Dystonia 18 Paroxysmal exertion-induced dyskinesia edit English childhood onset GLUT1 deficiency syndrome 2 Paroxysmal exertion-induced [wikidata.org]

GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia [genecards.org]

Kertesz described a group of patients who primarily had a childhood onset of movement-induced paroxysmal choreoathetosis ( Kertesz 1967 ). [medlink.com]

Limb-Girdle Muscular Dystrophy Type 2J

onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. [orpha.net]

The age of onset varies from subgroup to subgroup. Overall, onset is more common in childhood but it may even occur late in adult life. [rarediseases.org]

Onset is usually in late childhood and the phenotype can be mild to severe. Patients can have calf hypertrophy. [mdfgauteng.org]

Non-Dystrophic Myotonia

Myotonia symptoms in NDM patients has an onset in childhood, which is often perceived by patients to persist, and even increase in severity, over their lifetime, impacting [lupin-neurosciences.com]

Myotonia in NDM patients has an onset in childhood and persists over the patient’s lifetime – significantly impacting the patient’s daily life. [biospace.com]

Myotonia permanens

Non-dystrophic myotonic syndromes (NDM) represent a heterogeneous group of inherited skeletal muscle disorders, clinically characterized by myotonia with onset in early childhood [nmd-journal.com]

childhood Both males and females may be affected The age of onset is in childhood, either in the neonatal period or infancy What are the Risk Factors for Potassium-Aggravated [dovemed.com]

Type 1 can be classified into mild (late onset), classic (adult onset), childhood/juvenile, and congenital forms. [medicalhomeportal.org]

Muscular Dystrophy-Dystroglycanopathy Type C7

onset, resulting in gait abnormalities and scapular winging. [genecards.org]

Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth disease type 4D Childhood-onset [se-atlas.de]

Usually the more severe forms of EDMD with a childhood onset have missense mutations, whereas the milder LGMDIB is associated with het- erozygous truncating mutations: this [archive.org]

Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. [malacards.org]

Most patients are homozygous for the mutation with a phenotype characterized by a non-progressive myopathy with childhood onset of early fatigue, dyspnoea and palpitation [pubfacts.com]

[…] adult onset Hypertension early onset NR3C2, ADD2, CYP3A5, AGTR1, ATP1B1 etc. [centogene.com]

X-Linked Charcot-Marie-Tooth Disease Type 1

99.97 6 of 6 ATAD1 Hereditary Hyperekplexia AR 99.97 3 of 3 AUTS2 Autosomal Dominant Metal Retardation, Autism Spectrum Disorder AD 99.63 9 of 17 BICD2 Autosomal Dominant Childhood-Onset [igenomix.es]

Aplasia Cutis Congenita AD,AR 99.12 115 of 115 KAT6B Genitopatellar Syndrome, Ohdo Syndrome, Blepharophimosis-Intellectual Disability Syndrome AD 99.97 80 of 80 KBTBD13 Childhood-Onset [igenomix.es]

AD,AR 100 76 of 76 KIF5C Cortical Dysplasia, Complex, With Other Brain Malformations AD 99.96 7 of 7 KLHL40 Severe Congenital Nemaline Myopathy AR 99.98 26 of 26 KLHL41 Childhood-Onset [igenomix.es]

Charcot-Marie-Tooth Disease Type 1E

Emery-Dreifuss Muscular Dystrophy Type 1

Em·er·y-Drei·fuss mus·cu·lar dys·tro·phy ( em'ĕr-ē drī'fŭs ), [MIM*310300] a generally benign type of muscular dystrophy, with onset in childhood or early adulthood. [medical-dictionary.thefreedictionary.com]

LeJonne A slowly progressive muscular dystrophy with onset in childhood, usually at age 4 to 5 years. [whonamedit.com]

Onset usually begins in childhood or the teenage years. [mayoclinic.org]

Charcot-Marie-Tooth Disease Type 2O

Myotonia Levior

Several types have been identified: ● Thomsen disease [MIM 160 800, 118 425]: onset in childhood; the myotonia is primarily localized in the muscles of the limbs that are [sites.uclouvain.be]

The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. [openmd.com]

onset MYOTONIA. [online-medical-dictionary.org]

Acetazolamide-Responsive Myotonia

Congenital myasthenic syndromes are characterized by fatigable weakness with an onset typically during infancy to early childhood. [humpath.com]

childhood Both males and females may be affected The age of onset is in childhood, either in the neonatal period or infancy What are the Risk Factors for Potassium-Aggravated [dovemed.com]

onset myotonia. [icd9data.com]

Autosomal Recessive Spastic Paraplegia Type 32

[…] nemaline myopathy Rare neurologic disease 3 0 0 Childhood-onset nemaline myopathy Rare neurologic disease 3 0 0 Childhood-onset nemaline myopathy Rare neurologic disease [mousebook.org]

Heritability: Autosomal recessive inheritance Clinical Modifiers: Slow progression, Childhood onset AKA: hereditary spastic paraplegia type 32, spastic paraplegia 32, autosomal [monarchinitiative.org]

SPG35 is characterized by childhood-onset gait impairment, spastic paraparesis, ataxia, and dystonia. [mdsabstracts.org]

X-Linked Spastic Paraplegia Type 2

Kindreds with autosomal dominant HSP linked to 2p have exhibited (1) the prototypical adolescent- or adult-onset, progressive form and (2) the less common childhood-onset, [emedicine.medscape.com]

For some childhood-onset forms, symptoms become apparent, gradually worsen during childhood, and then stabilize after adolescence. [sp-foundationorg.presencehost.net]

Autosomal Dominant Osteopetrosis Type 2

A milder, autosomal dominant form has onset in childhood and no neurologic sequelae. [medical-dictionary.thefreedictionary.com]

Symptom onset in childhood, recurrent fractures, vision loss and pancytopenia due to the progressive narrowing of cranial nerve foramina and medullary spaces, respectively [symptoma.com]

In rare cases, OPTA2 may manifest in childhood. [symptoma.com]

Potassium-Aggravated Myotonia

childhood Both males and females may be affected The age of onset is in childhood, either in the neonatal period or infancy What are the Risk Factors for Potassium-Aggravated [dovemed.com]

onset Symptoms begin in childhood 0011463 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 EMG: myotonic runs 0003730 Handgrip myotonia [rarediseases.info.nih.gov]

The autosomal dominant MC, also called Thomsen disease, characteristically has an early onset (infancy to early childhood) while the recessively inherited form may have a [content.iospress.com]

Lymphoproliferative Syndrome 1

We describe clinical course, morphological and histological features of XLP2 diagnosed in cases with childhood onset IBD. [ecco-ibd.eu]

onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease [rgd.mcw.edu]

[…] in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin [mendelian.co]

RAS-Associated Autoimmune Leukoproliferative Disease

Clinical description Age of onset of the clinical signs is invariably in infancy or early childhood. [orpha.net]

Hereditary Angioedema

It is a rare disorder with an onset during childhood in most instances. Therefore, familiarity with the options for the management of pediatric cases is indispensable. [ncbi.nlm.nih.gov]

Onset is usually during childhood or adolescence (hereditary) or during later adulthood (acquired), often in patients with a neoplastic or an autoimmune disorder. [msdmanuals.com]

Onset is usually during childhood or adolescence for hereditary angioedema or during later adulthood for acquired angioedema, often in patients with a neoplastic or an autoimmune [msdmanuals.com]

Camurati-Engelmann Syndrome

[…] of the disease is usually during childhood; patients usually present by puberty and usually before age 30, with limb pain, muscular weakness, waddling gait and easy fatigue [go.gale.com]

Discussion The onset of CED is usually during childhood and before 30 years of age [1,2,4]. [clinical-medicine.panafrican-med-journal.com]

[…] bone involvement was reported by Engelmann in 1929.(6-9) As the name suggests, there is progressive hyperostosis and predominant involvement of the diaphyses.(6-10) The onset [go.gale.com]

Autosomal Dominant Aplasia and Myelodysplasia

This diverse group of disorders is thought to be... more Fanconi anemia (FA) is a rare autosomal recessive chromosomal breakage disorder characterized by the childhood onset [scinapse.io]

Death often occurs in childhood (summary by Walne et al., 2013 ). [mendelian.co]

Death often occurs in childhood (summary by Walne et al., 2013 ).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 ( OMIM ). [mendelian.co]

Thymidine Kinase 2 Deficiency

Optic Atrophy, Ophthalmoplegia, Myopathy, and Neuropathy Clinical Characteristics Ocular Features: Visual symptoms have an insidious onset in childhood with vision loss and [disorders.eyes.arizona.edu]

onset of muscle weakness and depletion of mtDNA in skeletal muscle. [medical-dictionary.thefreedictionary.com]

[…] occurs from childhood to adulthood Causes stroke-like episodes, migraine headaches, vomiting and seizures, muscle weakness, exercise intolerance, hearing loss, diabetes and [neurosciences.uvahealth.com]

Persistent Polyclonal B-cell Lymphocytosis

[…] ataxia with dementia Late-onset benign childhood occipital epilepsy Late-onset citrullinemia type 1 Late-onset citrullinemia type I Late-onset distal crystallinopathy Late-onset [orpha.net]

Late infantile CACH syndrome Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late infantile NCL Late infantile neuronal ceroid lipofuscinosis Late-onset [orpha.net]

Acute Hepatic Porphyria

Among homozygotes and compound heterozygotes, onset typically is in childhood, and symptoms are often severe. [msdmanuals.com]

Complement Factor I Deficiency

Parathyroid adenoma (Costa-Guda -2013 Horm Cancer 4 301)616910 CEBPE78.40.990.98Specific granule deficiency,245480 CECR1111.60.990.98Polyarteritis nodosa, childhood-onset, [qgenomics.com]

Distal Spinal Muscular Atrophy Type 4

OBJECTIVE: To describe the clinical features of a novel variant of autosomal recessive lower motor neuron disease (LMND) with childhood onset and to map the disease-causing [ncbi.nlm.nih.gov]

Results: This novel variant of LMND with childhood onset and autosomal recessive mode of inheritance is characterized by a progressive symmetric and generalized involvement [neurology.org]

RESULTS: This novel variant of LMND with childhood onset and autosomal recessive mode of inheritance is characterized by a progressive symmetric and generalized involvement [ncbi.nlm.nih.gov]

Aromatic L-Amino Acid Decarboxylase Deficiency

These disorders typically present in infancy or childhood, but later onset presentations have also been described. [invitae.com]

The onset of neurotransmitter disorders can occur at any age but most commonly in infancy and childhood. [tp.amegroups.com]

Hypotension or orthostatic hypotension was reported in 15 patients, with onset mostly in late childhood or adolescence. [ojrd.biomedcentral.com]

Congenital Dyserythropoietic Anemia Type 1B

Clinical description Onset of CDA generally occurs in childhood or early adulthood, even if clinical signs can occasionally be observed in the neonatal period. [orpha.net]

The diagnosis of CDA is often made during childhood, though there is no age limit. [indianpediatrics.net]

It can have an intra-uterine onset with severe anemia, resulting in cardiac failure or the disease may remain undiscovered until late adult life(5,6). [indianpediatrics.net]

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

LeJonne A slowly progressive muscular dystrophy with onset in childhood, usually at age 4 to 5 years. [whonamedit.com]

1.25) LGMD has varied onset and symptoms, although the autosomal recessive form is more common (childhood onset). [quizlet.com]

EDMD is a relatively benign form of dystrophy, with onset in early childhood and thereafter relatively slow progression that is characterized by the triad: Early contractures [genpharmservices.com]