This work uses computer aided classification techniques to identify which measures of the disease progression, including accurate determination of the shortest allele repeat length, are the most informative when trying to predict likely disease progression and prognosis. Further we investigate the ...
Progressive cerebellar ataxia and cognitive impairment (mental retardation and/or intellectual deterioration) are the common symptoms, whereas the severity, progression and prognosis of the disease vary even between patients from the same family.8,13 When the progression of symptoms was slow, patients ...
Rapid progression is often characteristic for paraneoplastic cerebellar degeneration, autoimmune diseases or multiple system atrophy (MSA). The rapid development of massive parallel DNA sequencing and its increased accessibility have enabled for improved diagnostic resolution of patients. A diagnosis based on...
Prognosis The rate of progression of FA is highly variable. Most patients lose the ability to walk within 15 years of symptom onset, and 95% require a wheelchair for mobility by age 45. Reduction in lifespan from FA complications is also quite variable. Average age atdeathis in the mid-th...
disease progression usually slower than in typical Friedreich ataxia, including later age of confinement to a wheelchair lower incidence of secondary skeletal abnormalities (such as scoliosis, pes cavus, pes equinovarus) Friedreich ataxia with retained reflexes (FARR)...
The clinical significances of p-ATR and p-ATM protein expression were evaluated in terms of tumor progression and survival.Low expression of cytoplasmic p-ATR was significantly associated with advanced stage, serous histology, large residual mass, and high preoperative serum CA125 level. Univariate ...
The worldwide incidence of A-T is estimated to be 1 in between 40,000 and 100,000 live births, and the prevalence varies with the degree of consanguinity. Treatments thus far to halt the progression of the disease have been discouraging....
Although general correlations exist between earlier age of onset and more severe disease with increasing number of CAG repeats, the age of onset, severity of disease, specific symptoms, and rate of disease progression are variable and can- not be accurately predicted by the family history or ...
[38]Some authors reported an adult-onset form of A-T, characterized by a much milder phenotype, that manifests later in life and progresses slowly. An intermediate phenotype that still presents during the first or second decade but has a more favorable course of progression has also been ...
Clinicians should ask the patients if any of the symptoms and signs are present, the level of functional disability in activities of daily living, onset, and progression. Common signs and symptoms include abnormalities in gait, slurred speech, difficulty in walking, abnormal eye movements, difficulty...