Kearns-Sayre syndrome (KSS) is a neuromuscular disorder defined by the triad of onset before age 20 years, pigmentary retinopathy (a "salt-and-pepper" pigmentation in the
[rarediseases.info.nih.gov]
[…] before age 20, and severe cardiac conduction defects that can lead to death.
[ncbi.nlm.nih.gov]
Abstract Kearns-Sayre syndrome (KSS) is a sporadic multisystem mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset
[ncbi.nlm.nih.gov]
BACKGROUND: Juvenile Huntington disease (JHD) is a rare clinical entity characterized by an age at onset younger than 20 years.
[ncbi.nlm.nih.gov]
Abstract The age of onset distribution of Huntington disease (HD) has been defined for siblings of patients who exhibit the disease before age 20.
[ncbi.nlm.nih.gov]
There were 94 patients with age at onset under 20 years, 537 with onset between the ages of 20 and 34, 953 with onset between 35 and 49, and 484 patients with late onset HD
[jnnp.bmj.com]
The median age of the onset was 20 years.
[doaj.org]
Within the subtypes of NHMA, patients with typical aura with migraine headache had an earlier age at onset (20 +/- 10 vs. 23 +/- 13 years, P= .044) and a higher co-occurrence
[ncbi.nlm.nih.gov]
[…] occurring before the age of 20 years.
[biblioteca.versila.com]
Before age 20 years: Friedreich ataxia, ataxia with oculomotor apraxia types 1 and 2 Before age five years: ataxia-telangiectasia Infantile: SCA2, SCA7 Onset with episodic
[ncbi.nlm.nih.gov]
[…] other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset
[biblioteca.versila.com]
The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4years.The median age at diagnosis was 6 years(extremes: 2 months and14 years) (table
[latunisiemedicale.com]
Ataxia with oculomotor apraxia types 1 and 2 (AOA1 and AOA2) are autosomal recessive ataxias characterized by an early age of onset.
[ncbi.nlm.nih.gov]
The systemic symptoms which are commonly found in patients with A-T are not characteristically seen in these other forms.[20] Ataxia-Telangiectasia-Like Disorders (ATLD) The
[ncbi.nlm.nih.gov]
People with this type usually develop muscle weakness between ages 20 and 50. Frequency Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals.
[medlineplus.gov]
Childhood-Onset Nemaline Myopathy This form of nemaline myopathy usually becomes apparent between 10-20 years of age and accounts for approximately 13 percent of cases.
[rarediseases.org]
The adult-onset form presents with symmetric proximal weakness in persons aged 20–50 years.
[emedicine.medscape.com]
[…] before age 20 years, early involvement of posterior foreleg muscles, and markedly elevated CK levels (20-50 times normal upper limit).18 Progression is slow but relentless
[practicalneurology.com]
The cohort of 63 cases studied at the Mayo Clinic from 1977 to 2003 (11) had a mean age at onset of 54 years but only one patient presented before the age of 10 years, and
[ncbi.nlm.nih.gov]
[…] in improving muscle strength or function, however.17 Miyoshi’s Myopathy Miyoshi’s myopathy is a primary disorder of skeletal muscle usually presenting with the triad of onset
[practicalneurology.com]
The authors present a case, concerning a young man, aged 20 years, died 11 months after the onset of the disease.
[idexlab.com]
Early-onset cases that begin before age 20 may be referred to as juvenile-onset disease.
[flybase.org]
Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.
[snpedia.com]
In people with ‘juvenile-onset’ (diagnosed under the age 20) or ‘early-onset’ Parkinson’s disease (diagnosed under the age 40), genetic variations can account for the majority
[scienceofparkinsons.com]
The typical age of onset of symptoms is in the late teens to early 20s, but the age range covers the entire life span, to include congenital forms in infancy through the elderly
[emedicine.medscape.com]
[11, 12, 13] Some evidence indicates that age of onset of clinical symptoms is lower in maternally transmitted NF2.
[emedicine.medscape.com]
Kearns-Sayre syndrome (KSS) is defined by the triad of onset before age 20 years, pigmentary retinopathy, and progressive external ophthalmoplegia (PEO).
[refsumdisease.org]
The mean age of onset of SCA2 is in the 4th decade, but is more rapidly progressive when onset occurs before age 20.
[ataxia.uchicago.edu]
usually around the age of 20.
[en.wikipedia.org]
It is particularly prevalent in younger people; the mean age of uveitis patients at the onset of the disease is less than 40 years of age [20–22].
[ojrd.biomedcentral.com]
Childhood-Onset Nemaline Myopathy This form of nemaline myopathy usually becomes apparent between 10-20 years of age and accounts for approximately 13 percent of cases.
[rarediseases.org]
It occurs in individuals between the ages of 20-50 who develop generalized muscle weakness that may progress rapidly. Muscle pain (myalgia) may also occur.
[rarediseases.org]
Adult-Onset Nemaline Myopathy The onset and severity of this form of nemaline myopathy varies. It is extremely rare accounting for only 4 percent of cases.
[rarediseases.org]
Of 1103 individuals with early-onset PD from 16 centers across the United States, only 20 (1.8 percent) reported onset before age 20, with the earliest at age 7.
[neurolink.athenadiagnostics.com]
This organization also suggests this mutation affects 32 percent of people who experience onset between age 20 and 30.
[healthline.com]
Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease. [ Read More ]
[icdlist.com]
[…] before age 20 Past or current cigarette use A family history of diabetic nephropathy Pathophysiology [ edit ] Diagram showing the basic outline of nephron structure and function
[en.wikipedia.org]
[…] people with diabetes that have one or more of the following conditions: [1] Poor control of blood glucose Uncontrolled high blood pressure Type 1 diabetes mellitus, with onset
[en.wikipedia.org]
[…] before age 20 years, pigmentary retinopathy, and progressive external ophthalmoplegia (PEO).
[heighpubs.org]
[…] pathogenic single-nucleotide variant of mtDNA (e.g., m.3243A>G) [48]. f) Kearns-Sayre syndrome (KSS): A mtDNA deletion syndrome, is a multisystem disorder defined by the triad of onset
[heighpubs.org]
Clinical presentation is variable and our experience suggested that phenotypic differences exist in CPEO with onset after age 20.
[ncbi.nlm.nih.gov]
KSS is characterized by three main features: typical onset before age 20 although may occur in infancy or adulthood paralysis of specific eye muscles (called chronic progressive
[umdf.org]
Age In KSS, onset of CPEO is before age 20 years.
[emedicine.com]
[…] occurring before the age of 20 years.
[digital.csic.es]
[…] occurring before the age of 20 years (Palau and Espinos, 2006; pubmed:17112370 ).
[flybase.org]
usually around the age of 20.
[en.wikipedia.org]
KSS requires onset before age 20 years, although some investigators have reported individuals with CPEO-plus and a disease onset below age 20 years.
[ncbi.nlm.nih.gov]
Age In KSS, onset of CPEO is before age 20 years.
[emedicine.medscape.com]
Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis pigmentosa and an onset before the age
[ncbi.nlm.nih.gov]
It is extremely rare with fewer than 20 patients reported to date. Clinical description Age of onset of the clinical signs is invariably in infancy or early childhood.
[orpha.net]
[…] before the age of 20, less frequently when onset is between ages 20 and 40, and rarely with onset above the age of 40.18 Seizures in DRPLA can be tonic, clonic, tonic-clonic
[jnnp.bmj.com]
Mean onset age is in early adulthood between 20 to 45 years. Mean survival time is 1 to 10 years, and rapid progression is suspicious of this cause.
[movementdisorders.org]
[…] unclear.19 Similar to HD, there is a negative correlation between age of onset and repeat length.20 In contrast to HD, however, the anticipation phenomenon is more likely
[movementdisorders.onlinelibrary.wiley.com]
SIGNIFICANCE: In ring(20) syndrome, epilepsy has an age dependent course and a worse outcome when age at seizure onset is earlier.
[ncbi.nlm.nih.gov]
Methods: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind
[moh-it.pure.elsevier.com]
METHODS: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind
[ncbi.nlm.nih.gov]
An autosomal recessive disorder of the urea cycle (OMIM:603471), usually of abrupt onset between age 20 and 50, which is clinically characterised by neuropsychiatric symptoms
[medical-dictionary.thefreedictionary.com]
[Nagasaka: 2017] The adult form, citrullinemia II (CTLN2), most commonly has an onset between ages 20-50 years with a thin body habitus and potentially life-threatening recurrent
[medicalhomeportal.org]
Onset is sudden and usually between the ages of 20 and 50 years.
[uniprot.org]
Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease. [ Read More ]
[icdlist.com]
Sixty had clinical onset between the ages of 20–40, representing 10.2% of our PD population; in the others the symptoms began after the 40th birthday.
[onlinelibrary.wiley.com]
Juvenile Parkinson’s disease in patients under the age of 20 is extremely rare.
[sharecare.com]
[…] before the age of 20, less frequently when onset is between ages 20 and 40, and rarely with onset above the age of 40.18 Seizures in DRPLA can be tonic, clonic, tonic-clonic
[jnnp.bmj.com]
The disease usually starts in the 30s and 40s, but about 10 percent of HD cases have their onset before age 20 (juvenile HD).
[bcm.edu]
[…] before the age of 20, less frequently when onset is between ages 20 and 40, and rarely with onset above the age of 40. 18 Seizures in DRPLA can be tonic, clonic, tonic-clonic
[jnnp.bmj.com]
Childhood onset – 0 to age 12 Adolescent onset – age 13 to 20 Adult onset – older than age 20 Focal dystonia is limited to one area of the body and can affect the neck (cervical
[aans.org]
By age at onset Early‐onset (variably defined as ≤20–30 years): usually starts in a leg or arm and frequently progresses to involve other limbs and the trunk.
[onlinelibrary.wiley.com]
Conversely, the older one is at onset, the more likely that the disorder will remain more moderate.
[aans.org]
In 1989, 16 cases on EOCA were diagnosed in children with a mean onset age of 7.1 In 1990, 20 patients affected by EOCA were studied.
[en.wikipedia.org]
Abstract A clinical and genetic study was performed on 20 patients affected by early onset cerebellar ataxia with retained tendon reflexes (EOCA).
[ncbi.nlm.nih.gov]
[…] at age 20–40 years with progressive cerebellar ataxia and, In many patients, spastic paraparesis • The pathological changes are unique with amyloid plaques throughout the
[slideshare.net]
[…] of onset (bimodal -- Age < 20 years or Age > 55 years) A full neurologic exam shoulder is performed, including an assessment for upper motor neuron findings (Babinski sign
[ncbi.nlm.nih.gov]
[…] night, pain at rest, unexplained weight loss, or night sweats Significant medical comorbidities Neurologic deficit or serial exam deterioration Gait ataxia Saddle anesthesia Age
[ncbi.nlm.nih.gov]
KSS is a slowly progressive mitochondrial disorder with onset before age 20 years.
[ajnr.org]
Age In KSS, onset of CPEO is before age 20 years.
[emedicine.medscape.com]
[…] before age 20 years, and pigmentary retinopathy.
[emedicine.medscape.com]
