Possible Causes for childhood onset 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] Limb-Girdle Muscular Dystrophy Type 2J […] dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Hereditary proximal myopathy with early respiratory failure Tibial muscular dystrophy Childhood-onset [csbg.cnb.csic.es] 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] […] autosomal recessive slowly progressive spinocerebellar ataxia Childhood-onset epilepsy syndrome Childhood-onset nemaline myopathy Childhood-onset spasticity with hyperglycinemia [se-atlas.de] 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] Kertesz described a group of patients who primarily had a childhood onset of movement-induced paroxysmal choreoathetosis ( Kertesz 1967 ). [medlink.com] onset, and no associated tremor. [doi.org] Emery-Dreifuss Muscular Dystrophy Type 1 Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities [ajnr.org] Emery-Dreifuss muscular dystrophy (EDMD) is a rare childhood-onset degenerative muscle disease seen almost exclusively in males. [mda.org.au] Rosales XQ, al-Dahhak R, Tsao CY (2012) Childhood Onset of Limb-Girdle Muscular Dystrophy. Pediatr Neurol 46:13-23. [omicsonline.org] 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] onset of lymphadenopathy, splenomegaly, hypergammaglobulinemia, and autoimmune phenomena. [thedoctorsdoctor.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] Generalized Epilepsy with Febrile Seizures Plus Moreover, the ability to identify large families with this newly recognized common, childhood-onset, generalized genetic epilepsy syndrome suggests that it should be a prime [ncbi.nlm.nih.gov] Abstract Generalized epilepsy with febrile seizures plus (GEFS ) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous [ncbi.nlm.nih.gov] Generalized epilepsy with febrile seizures plus (GEFS( )) is a recently described benign childhood-onset epileptic syndrome with autosomal dominant inheritance. [ncbi.nlm.nih.gov] 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] Panayiotopoulos Syndrome […] in addition to the “benign childhood epilepsy with centrotemporal spikes” and the “late‐onset childhood occipital epilepsy (Gastaut type).” [onlinelibrary.wiley.com] Fejerman et al. offered the new name of the syndrome – benign childhood occipital lobe epilepsy, with earlier onset (Panayiotopoulos type), versus the childhood occipital [ingentaconnect.com] Autonomic seizures and autonomic status epilepticus in early onset benign childhood occipital epilepsy (Panayiotopoulos syndrome) Crises autonômicas e status epilepticus autonômico [scielo.br] 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] Biotin-Responsive Basal Ganglia Disease Abstract Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria [ncbi.nlm.nih.gov] Skip to content biotin-responsive basal ganglia disease Joe Segen 2016-11-24T21:43:30 00:00 NEUROLOGY Definition An autosomal recessive metabolic disorder (OMIM:607483) of childhood [newmedicalterms.com] An autosomal recessive metabolic disorder (OMIM:607483) of childhood onset characterised by episodic encephalopathy, often triggered by febrile illness, presenting as confusion [medical-dictionary.thefreedictionary.com] 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] However, there may be some symptom overlap between the three clinical forms and RM has also been reported in the mild childhood onset form [ 48 ] which may evolve into an [ojrd.biomedcentral.com] Systemic Lupus Erythematosus with Organ/System Involvement European evidence-based recommendations for diagnosis and treatment of childhood-onset systemic lupus erythematosus: the SHARE initiative. [rheumatologyadvisor.com] Introduction Childhood-onset lupus nephritis (LN) is more severe and carries a worse prognosis than in adults ( 1 ). [cjasn.asnjournals.org] All of the 34 childhood-onset systemic lupus erythematosus patients and 35 healthy controls participated in this study. [ncbi.nlm.nih.gov] 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] Growth Hormone Deficiency CONCLUSIONS: The results of this study underline the importance of further reassessment of pituitary function in young adults with GHD of childhood-onset and poststimulation [ncbi.nlm.nih.gov] How is childhood-onset growth hormone deficiency diagnosed? [yourhormones.info] The aim of this study is to characterize the clinical, hormonal, and radiological features in childhood-onset AGHD (CO AGHD) in a single center in China and to compare them [ncbi.nlm.nih.gov] Lipoid Proteinosis Seizure onset may be in childhood or adulthood. [ncbi.nlm.nih.gov] […] encountered in early childhood. [ijdvl.com] Onset of lipoid proteinosis is usually in early infancy, heralded by hoarseness of voice due to laryngeal infiltration. [4] This should alert the physician particularly when [ijdvl.com] 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] One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained [rarediseases.org] For some childhood-onset forms, symptoms become apparent, gradually worsen during childhood, and then stabilize after adolescence. [sp-foundationorg.presencehost.net] 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] Childhood Schizophrenia […] of childhood-onset schizophrenia. [doi.org] This article discusses genetic studies of childhood-onset schizophrenia (COS) and compares findings in familial aggregation, common allele, and rare allele studies of COS [ncbi.nlm.nih.gov] Childhood-onset schizophrenia (COS): onset of psychotic symptoms by age 12 years. [psychology.illinoisstate.edu] Platelet-Type Bleeding Disorder 17 It has an insidious onset, and a history of an antecedent infection need not be present. Unlike childhood ITP, chronic ITP is more common in females than in males. [emedicine.medscape.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] […] erythropoiesis, typical morphological abnormalities of erythroblasts, low or no reticulocyte response, hyperbilirubinemia and splenomegaly. 3 CDA can be diagnosed in early childhood [annsaudimed.net] The diagnosis of CDA is often made during childhood, though there is no age limit. [indianpediatrics.net] Camurati-Engelmann Syndrome […] hypoplasia Brachioskeletogenital syndrome PASLI disease Hemoglobin SC disease Chondrodysplasia punctata 2 X-linked dominant Hard skin syndrome Parana type Clouston syndrome Childhood-onset [checkrare.com] The onset of the disease is in childhood and it usually progresses during the adolescence, but in adulthood its course may be stationary or slowly progressive. [elsevier.es] The onset of the disease is usually during childhood and almost always before the age of 30. [doi.org] Autosomal Dominant Osteopetrosis Type 2 Clinical description Onset of the disease is typically in late childhood or adolescence. [orpha.net] A milder, autosomal dominant form has onset in childhood and no neurologic sequelae. [medical-dictionary.thefreedictionary.com] X-linked Distal Spinal Muscular Atrophy Type 3 […] to mycobacterial diseases due to complete ISG15 deficiency Autosomal dominant nonsyndromic intellectual deficit Craniopharyngioma Desmoid tumor Hepatocellular carcinoma, childhood-onset [csbg.cnb.csic.es] Type 3 SMA Type 3 SMA, also known as Kugelberg-Welander disease, is the mildest form of childhood onset SMA and onsets after 18 months of age. [www2.warwick.ac.uk] Brzustowicz LM, et al., Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990;344:540-41. [rarediseases.org] Nemaline Myopathy Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. [ncbiobank.org] The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy [ncbi.nlm.nih.gov] Individuals with identified MYPN mutations in all four of these families have relatively mild, childhood- to adult-onset NM with slowly progressive muscle weakness. [ncbiobank.org] Congenital Myopathy with Excess of Thin Filaments Ankur Singh,Vilma-Lotta Lehtokari,Carina Wallgren-Pettersson,Vineeta Vijay Batra The Indian Journal of Pediatrics. 2013; 80(8): 691 3 Clinical and Pathological Features of Childhood-Onset [neurologyindia.com] The childhood-onset form presents with distal leg weakness in the late first or early second decade. [emedicine.medscape.com] Disease Type of connection Childhood-onset nemaline myopathy Congenital fiber-type disproportion myopathy Intermediate nemaline myopathy Typical nemaline myopathy Severe congenital [csbg.cnb.csic.es] Hip Dysplasia Type Beukes onset - Flat capital femoral epiphysis - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - Last updated: 5/8/2017 CauseCause [diabetes.medicclub.info] onset Symptoms begin in childhood 0011463 Flat capital femoral epiphysis Flat end part of innermost thighbone 0003370 Irregular capital femoral epiphysis Irregular end part [rarediseases.info.nih.gov] Occasional (present in 5%-29% of cases) Scoliosis Occasional (present in 5%-29% of cases) Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Childhood [diabetes.medicclub.info] Limb-Girdle Muscular Dystrophy Type 2C Childhood ICD-10: G71.0 OMIM: 253700 UMLS: C0410173 MeSH: - GARD: 2429 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net] Chapter First Online: 27 June 2014 Abstract Severe childhood-onset autosomal recessive muscular dystrophy (SCARMD) was first described by Ben Hamida and Fardeau in a symposium [link.springer.com] Disease definition Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood [orpha.net] Pure Hereditary Spastic Paraplegia Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms. [ncbi.nlm.nih.gov] Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/ SPAST and SPG3A/ ATL1 being the most frequent forms. [link.springer.com] We report the clinical and genetic findings in our patients and aim to offer insights into the diagnostic difficulties of childhood-onset disease. [ncbi.nlm.nih.gov] Myoclonic-Astatic Epilepsy Abstract Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic [ncbi.nlm.nih.gov] Childhood-onset myoclonic-astatic attacks are the characteristic seizures associated in most with episodes of nonconvulsive status and generalized tonic-clonic seizures. [ncbi.nlm.nih.gov] Those two groups meet the characteristics of childhood onset myoclonic-astatic epilepsy (MAE) with respectively, favourable and unfavourable outcome. (3) Eleven children had [ncbi.nlm.nih.gov]
