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Spinocerebellar ataxia (SCA) describes a group of hereditary neurodegenerative disorders characterized by a slowly progressive ataxia. Early symptoms include difficulty with gait and balance and as the disease progresses may include poor coordination of hand movements, eye movements, and speech.
10 paź 1998 · The diagnosis of SCA3 is established in a proband with suggestive findings and a heterozygous abnormal CAG trinucleotide repeat expansion in ATXN3 identified by molecular genetic testing. Management. Treatment of manifestations: Management is supportive as no medication slows the course of disease.
8 gru 2022 · We report a case of a patient with previously unreported manifestations of SCA3-associated retinopathy. A 53-year-old man with SCA3 presented for neuro-ophthalmic and retinal evaluation with blurry vision for the past year.
13 wrz 2013 · To report optical coherence tomography (OCT) findings in order to detect subclinical alterations of the afferent visual pathways in spinocerebellar ataxia 3 (SCA-3).
Symptoms may include slowly progressive clumsiness in the arms and legs; a manner of walking (gait) that may be mistaken for drunkenness; difficulty speaking and swallowing; impaired eye movements or vision; and lower limb spasticity.
Machado-Joseph Disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is the most common spinocerebellar ataxia worldwide. [1] . MJD can have widespread symptoms due to the the many anatomical structures that can be affected. These structures include: Of the aforementioned structures, the common finding is degeneration.
Symptoms of MJD are memory deficits, [4] spasticity, difficulty with speech and swallowing, weakness in arms and legs, clumsiness, frequent urination and involuntary eye movements. Symptoms can begin in early adolescence and they get worse over time.
