Adult-Onset: Causes & Reasons

Possible Causes for Adult-Onset

Abstract Adult-onset Pompe disease (acid maltase deficiency, glycogen storage disease type II) should be considered in the differential diagnosis in the adult patient presenting [ncbi.nlm.nih.gov]

This form can also be called juvenile/adult-onset Pompe disease. [pompediseasenews.com]

Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve 2009; 40: 149-60. 15. Raben N, Roberts A, Plotz PH. [medicinabuenosaires.com]

Late-Onset Fabry Disease

Key Teaching Points • Late-onset Fabry disease is a cause of ventricular tachycardia in adult patients. • Unexplained left ventricular hypertrophy, inferolateral wall abnormalities [ncbi.nlm.nih.gov]

The GLA missense c.337T > C (p.Phe113Leu ) is a known pathogenic variant, associated with late-onset disease Azevedo et al. 2020a, b; Oliveira et al. 2020). [link.springer.com]

It was firstly identified in an adult male with mild cardiac-variant FD (Eng et al. 1997) and subsequently described in other case reports and population screening studies [link.springer.com]

Foreign Body in the Eye

Heritability: Autosomal recessive inheritance AKA: citrullinemia, type II, ADULT-onset; CTLN2, adult-onset citrullinemia type 2, citrullinemia, type II, adult-onset, citrullinemia [monarchinitiative.org]

2 The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 9 4 8 71 Kobayashi K...Saheki T 10369257 1999 3 An adult with type [malacards.org]

Title Other Names: Citrullinemia type II; Citrullinemia type 2; Adult-onset citrullinemia type 2; Citrullinemia type II; Citrullinemia type 2; Adult-onset citrullinemia type [rarediseases.info.nih.gov]

X-Linked Parkinsonism with Spasticity

X-linked parkinsonism with spasticity (XPDS) presents either as typical adult onset Parkinson's disease or earlier onset spasticity followed by parkinsonism. [ncbi.nlm.nih.gov]

Primary; Mixed Type Autosomal Dominant Adolescent onset, mostly segmental, rarely generalizes DYT-7 18pter-p11.32 Adult Onset Focal Primary Autosomal Dominant Adult onset [cmdg.org]

NBIA1 234200 Genetic Test Registry Neurodegeneration With Brain Iron Accumulation 3 Basal Ganglia Disease, Adult-Onset Neuroferritinopathy NBIA3 606159 Genetic Test Registry [ukgtn.nhs.uk]

Benign Adult Familial Myoclonic Epilepsy

[…] after 40 years; three had adult onset tonic–clonic seizures and two had adult onset myoclonic epilepsy. [jnnp.bmj.com]

It is distinct from progressive myoclonic epilepsy in its adult onset and non-progressive course. [jstage.jst.go.jp]

The syndrome is clinically characterized by: (i) adult-onset, irregular distal cortical myoclonus; (ii)... References 1. [link.springer.com]

Distal Spinal Muscular Atrophy Type 4

[…] their pathological and clinical features with hereditary lower motor neuron disease with adult onset, as described in the literature. [link.springer.com]

Genetic homogeneity between childhood‐onset and adult‐onset autosomal recessive spinal muscular atrophy. Lancet 1995 ; 346 : 741 –2. Brooks BR. [academic.oup.com]

Wokke Abstract We describe three members each of two families presenting with a hereditary form of lower motor neuron disease with adult onset and rapid progression and compare [link.springer.com]

X-linked Distal Spinal Muscular Atrophy Type 3

affects proximal muscles in adults Jokela-type spinal muscular atrophy (SMA-J) 615048 CHCHD10 22q11.2–q13.2 Autosomal dominant Late-onset, slowly progressive, affects both [ipfs.io]

In recent years adult onset SMA has been identified as a major cause of the limb girdle syndrome 2. [link.springer.com]

[…] with HSP -31 Distal spinal muscular atrophy with calf predominance Distal hereditary motor neuronopathy type 2D (DHMN2D) 615575 FBXO38 5q32 Autosomal dominant Juvenile- or adult-onset [ipfs.io]

Distal Spinal Muscular Atrophy Type 5

[…] spinal muscular atrophy Adult onset. [en.wikipedia.org]

Definition A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of [uniprot.org]

Get Update Overview HMSNO is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle [diseaseinfosearch.org]

Distal Spinal Muscular Atrophy Type 3

affects proximal muscles in adults Jokela-type spinal muscular atrophy (SMA-J) 615048 CHCHD10 22q11.2–q13.2 Autosomal dominant Late-onset, slowly progressive, affects both [ipfs.io]

There are 4 main types of SMA - Types 1, 2 and 3 appear in childhood, while Type 4 affects adults, and is also sometimes known as Adult Onset SMA. [routemapforsma.org.uk]

The more severe forms of adult-onset spinal muscular atrophy, such as spinal-bulbar muscular atrophy and progressive muscular atrophy, are similar to ALS. [disabilitysecrets.com]

Spinal and Bulbar Muscular Atrophy

SBMA represents the prototypical adult onset neurodegenerative disease caused by expansion of a trinucleotide repeat. [themedicalbiochemistrypage.org]

Abstract Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disease characterized by slowly progressive muscle weakness and atrophy. [ncbi.nlm.nih.gov]

X-linked spinal and bulbar muscular atrophy (SBMA) is an adult-onset neuromuscular disorder caused by a CAG repeat expansion in the androgen receptor gene. [ncbi.nlm.nih.gov]

Growth Hormone Deficiency

[…] hormone deficient once they reach adult life (adult onset). [yourhormones.info]

The impact of GH treatment on BMD in adults with adult onset GH deficiency requires investigation. [ncbi.nlm.nih.gov]

[…] growth hormone deficient once they reach adult life (adult onset). [yourhormones.info]

Recurrent Respiratory Papillomatosis

Adult-onset RRP is a rare manifestation of HPV and may be homologous to anogenital HPV, which is highly transmissible between sexual partners. [doi.org]

A new diagnosis of adult-onset recurrent respiratory papillomatosis (AO-RRP) prompts many questions related to disease acquisition, course, and transmission. [ncbi.nlm.nih.gov]

OBJECTIVES/HYPOTHESIS: To evaluate risk factors strongly associated with adult-onset recurrent respiratory papillomatosis (AO-RRP). [ncbi.nlm.nih.gov]

CADASIL Syndrome

The CADASIL is an adult-onset neurologic disorder (average age of onset is 45 years) characterized by recurrent strokes and dementia. [ncbi.nlm.nih.gov]

Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. [ncbi.nlm.nih.gov]

Alexander Disease

A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease. [ncbi.nlm.nih.gov]

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. [doi.org]

The extension and conspicuousness of the MR and pathologic brain involvement in infantile AD progressively reduces in juvenile-onset and adult-onset cases, becoming limited [doi.org]

Hallervorden-Spatz Syndrome

Clinically, it is classified into early-onset childhood, atypical late-onset, and adult-onset type. Adult-onset type is rarer. [ncbi.nlm.nih.gov]

The authors examined behavioral and pathophysiologic substrates in a patient with adult-onset Hallervorden-Spatz syndrome who presented with insidious cognitive decline but [ncbi.nlm.nih.gov]

Late adult onset chorea with typical pathology of Hallervorden-Spatz syndrome D A Grimes a, A E Lang b, C Bergeron c a Parkinson's disease and Movement Disorder Clinic, Ottawa [jnnp.bmj.com]

Neuronal Ceroid Lipofuscinosis

Adult-onset NCL (also referred to as Kufs disease) is the rarest entity of this group, with an incidence of 1 in 1,000,000 worldwide. [jnnp.bmj.com]

To our knowledge, this is the first reported case of an African-American with adult-onset NCL. [ncbi.nlm.nih.gov]

Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. [ncbi.nlm.nih.gov]

Adult-Onset Still Disease

10 (pg. 218 - 21 ) 12 A case of adult onset Still’s disease treated with infliximab, Clin Exp Rheumatol, 2002, vol. 20 pg. 113 13 Infliximab in a case of early adult-onset [doi.org]

adult-onset Still disease Adult still disease edit English adult-onset Still's disease arthritis that is a rare from of inflammatory arthritis characterized by fevers, rash [wikidata.org]

The adult-onset version was characterized by E. G. Bywaters in 1971. [en.wikipedia.org]

Juvenile Seronegative Polyarthritis

The same can be said for adult-onset RA. [healthline.com]

( M45 ) M08.2 Juvenile arthritis with systemic onset Still's disease NOS Excludes: adult-onset Still's disease ( M06.1 ) M08.3 Juvenile polyarthritis (seronegative) Chronic [apps.who.int]

JIA (Still's disease, not to be confused with adult onset Still's disease ) see above arthritis may present weeks to months after the onset of systemic symptoms Imaging shows [radiopaedia.org]

Systemic Juvenile Idiopathic Arthritis

Adult-onset Still's disease Specialty Rheumatology Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized [en.wikipedia.org]

""Adolescent-onset Still's disease": characteristics and outcome in comparison with adult-onset Still's disease". Clin. Exp. Rheumatol. 20 (3): 427–30. [en.wikipedia.org]

"[It is time to reconcile systemic juvenile idiopathic arthritis and adult-onset Still's disease]". [en.wikipedia.org]

Hereditary Proximal Myopathy with Early Respiratory Failure

– Early onset recessive generalized myopathy with ankle contractures – Adult onset recessive proximal muscular dystrophy – Childhood-juvenile onset Emery-Dreifuss–like phenotype [titinmyopathy.com]

[…] muscle+involvement (redirected from myopathy, proximal, with early respiratory muscle involvement ) hereditary myopathy with early respiratory failure An autosomal dominant adult-onset [medical-dictionary.thefreedictionary.com]

Given the increasing number of cases worldwide, HMERF should be considered in any individual with adult-onset distal myopathy associated with early respiratory symptoms, especially [neurology.org]

Neuronal Intranuclear Inclusion Disease

Based on these clinicopathological features, we proposed a diagnosis flow chart of adult-onset NIID. [ncbi.nlm.nih.gov]

Adult-onset NIID can result in prominent dementia. [ncbi.nlm.nih.gov]

Since the ophthalmoscopical findings and the subjective visual functions may be essentially normal, the characteristic ERG abnormalities can be an important findings in adult-onset [infona.pl]

Juvenile Huntington Disease

[…] of adult-onset HD. [web.stanford.edu]

The course of the juvenile form is generally more rapid than the adult-onset HD. [huntington-disease.org]

[…] the features of childhood-onset Huntington disease, underlining the differences with patients with adult-onset Huntington disease, and suggesting a differential phenotype [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 1G

onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. [mendelian.co]

In most cases, childhood onset of LGMD results in a more severe disorder that progresses more rapidly than adolescent or adult onset cases. [rarediseases.org]

The onset of HCM is usually during adolescence or young adulthood; however, it can range from infancy to much later in adult life. [egl-eurofins.com]

Schnitzler Syndrome

Collectively, Schnitzler syndrome and Schnitzler-like syndromes represent a spectrum of IL-1 mediated adult-onset autoinflammatory diseases. [physiciansweekly.com]

[…] lymphoma, lymphadenopathy, hepatomegaly, splenomegaly, hepatosplenomegaly, intermittent fever, rash, urticarial rash, adult onset, arthritis, enlarged liver, enlarged spleen [autoinflammatory-search.org]

which was initially diagnosed and treated as adult onset Still’s disease (AOSD). [dovepress.com]

Citrullinemia Type 2

2 The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. 54 24 56 6 Kobayashi K...Saheki T 10369257 1999 3 An adult with [malacards.org]

200 top medical experts on Adult-onset citrullinemia type 2 across 15 countries and 2 U.S. states, including 6 MDs (Physicians). [findexpertmd.com]

Laryngeal Papilloma

Clinically, the disease is divided into adult- and juvenile-onset forms [ 4 ]. [academic.oup.com]

In the juvenile onset group more females were affected; in the adult onset group more males were affected. [ncbi.nlm.nih.gov]

Based on the age at onset, clinically there are two forms of RRP: Juvenile onset and adult onset. 3 Juvenile onset RRP (JORRP) is seen most commonly between 2 and 4 years [waent.org]

Opsoclonus-Myoclonus Syndrome

Objective: To describe adult-onset OMS. [mayoclinic.pure.elsevier.com]

This first reported case of α3-AChR Ab positivity in the setting of adult-onset OMS expands the spectrum of associated autoantibodies. [ncbi.nlm.nih.gov]

Adult-onset opsoclonus-myoclonus syndrome is a rare condition for which paraneoplastic and infectious causes have been attributed. [ncbi.nlm.nih.gov]

Adult-Onset Cervical Dystonia Type DYT23

Related phenotypes are torticollis and cerebellar atrophy Disease Ontology : 12 A focal dystonia characterized by autosomal dominant inheritance of adult-onset cervical dystonia [malacards.org]

(DTo) Assigned diseases: Back to detailed view In the following you will find the diseases that this support group organisation focuses on: Adult-onset cervical dystonia, [se-atlas.de]

[…] dystonia parkinsonism ( DYT12 ), adult-onset cervical dystonia ( DYT23 ), craniocervical dystonia ( DYT24 ) and primary torsion dystonia ( DYT25 ). [cjcnn.org]

Distal Myopathy Type 3

[…] from hereditary inclusion body myopathy ; early adult onset type 2, or Miyoshi myopathy, with autosomal recessive inheritance linked to chromosome 2p12-p14; and early adult [doi.org]

Welander distal myopathy (WDM) is a late adult-onset autosomal dominant disorder, characterized by a slow progression and distal limb weakness of the extremity muscles. [dx.doi.org]

Abstract Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, [doi.org]

Spinocerebellar Ataxia Type 13

However, the adult-onset mutation tended to increase the complexity of the distal axonal arbor. [ncbi.nlm.nih.gov]

We characterize adult-onset, progressive clinical symptoms of two afflicted kindred and introduce the symptom of profound spasticity not previously associated with the SCA13 [link.springer.com]

[…] wild type Kv3.3 or infant- or adult-onset mutant proteins in motor neurons in the zebrafish spinal cord. [dmm.biologists.org]