Symptoms can also begin later in life, during childhood or adulthood, and the disease is then known as late-onset Pompe.
[pompediseasenews.com]
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]
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
[ncbi.nlm.nih.gov]
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]
onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles.
[orpha.net]
[…] 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]
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]
GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia
[genecards.org]
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]
[…] 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]
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]
Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities
[ajnr.org]
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]
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]
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]
Type 1 can be classified into mild (late onset), classic (adult onset), childhood/juvenile, and congenital forms.
[medicalhomeportal.org]
DM1 also has a congenital form that can severely affect babies and a childhood onset form.
[wikidoc.org]
[…] of myotonic dystrophy after one year but before ten years of age is called juvenile or childhood-onset myotonic dystrophy.[2] This type of myotonic dystrophy is similar to
[wiki.ubc.ca]
onset myotonia.
[icd9data.com]
onset review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hyperkalemic periodic
[panelapp.genomicsengland.co.uk]
Congenital myasthenic syndromes are characterized by fatigable weakness with an onset typically during infancy to early childhood.
[humpath.com]
Childhood onset Children who have no problems at birth but who show symptoms in childhood may be described as having this form.
[treat-nmd.org]
Five forms are currently recognized: congenital, early childhood, juvenile, adult-onset and late-onset.
[orpha.net]
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]
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]
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]
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]
Childhood-onset DM1 may present as a severe early congenital form, or as a milder form with symptoms beginning in the early school years.
[clinicalgate.com]
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]
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]
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]
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]
Myotonia Congenita: Inherited myotonic disorders with early childhood onset myotonia.
[findexpertmd.com]
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]
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]
Acquired form – onset occurs later Sex – M:F, equal Risk Factors Genetics Pressure applied to an extremity Stress Ingested estrogens, pregnancy Lymphoproliferative disorder
[arupconsult.com]
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]
(eg, Trichinella spp) Autoimmune conditions Laryngeal edema – peritonsillar abscess Background Epidemiology Incidence – 1/50,000 Age Congenital form – usually occurs in childhood
[arupconsult.com]
onset of muscle weakness and depletion of mtDNA in skeletal muscle.
[medical-dictionary.thefreedictionary.com]
onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy
[flybase.org]
In one form of ‘hepatocerebral’ depletion known as Alpers’ disease or Progressive Neuronal Degeneration of Childhood (PNDC), explosive onset of seizures, developmental delay
[newcastle-mitochondria.com]
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]
[…] are total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset
[medicinenet.com]
Type I is characterized by childhood onset and chronic mucocutaneous candidiasis (CANDIDIASIS, CHRONIC MUCOCUTANEOUS), while type II exhibits any combination of adrenal insufficiency
[idref.fr]
[…] 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]
[…] 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]
Fibrodysplasia ossificans progressiva Chitayat Meunier Hodgkinson syndrome Pfeiffer syndrome Brachydactyly tibial hypoplasia Thiamine responsive megaloblastic anemia syndrome Childhood-onset
[checkrare.com]
Clinical description Age of onset of the clinical signs is invariably in infancy or early childhood.
[orpha.net]
SYNE1 Childhood-Onset Multisystem Disease A rarer phenotype is childhood-onset complex and severe multisystem disease with ataxia, upper and lower motor neuron dysfunction
[ncbi.nlm.nih.gov]
Emery-Dreifuss muscular dystrophy is a rare disorder characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities
[ajnr.org]
1.25) LGMD has varied onset and symptoms, although the autosomal recessive form is more common (childhood onset).
[quizlet.com]
GOV'T BACKGROUND: The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly
[read.qxmd.com]
Abstract BACKGROUND: The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome (BRRS), with childhood onset, macrocephaly
[eprints.soton.ac.uk]
onset, often with delayed motor and intellectual development.
[ajnr.org]
[…] 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]
Among homozygotes and compound heterozygotes, onset typically is in childhood, and symptoms are often severe.
[msdmanuals.com]
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]
In our patient, the AADCD onset was with behavioral abnormalities.
[journals.lww.com]
