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Vor 2 Tagen · Lateral medullary syndrome is a rare type of stroke resulting from a vascular event in the lateral part of the medulla oblongata. Loss of pain and temperature in the ipsilateral side of the face, and contralateral side of the body along with ipsilateral ataxia, vertigo, nystagmus, dysphagia, and hiccups are the hallmark clinical presentation ...
Vor 2 Tagen · Friedreich’s Ataxia (FRDA) stands out as the most prevalent form of hereditary ataxias, marked by progressive movement ataxia, loss of vibratory sensitivity, and skeletal deformities, severely affecting daily functioning. To date, the only medication available for treating FRDA is Omaveloxolone (Skyclarys®), recently approved by the FDA. Missense mutations within the human frataxin (FXN ...
Vor 4 Tagen · Many of the symptoms of cerebellar infarction are non-specific, such as nausea, vomiting, dizziness, unsteadiness, and headache, and the clinical diagnosis relies on a focussed neurological examination and a reasonable index of suspicion. Examination findings include incoordination, ataxia, and horizontal nystagmus.
Vor 5 Tagen · Dysdiadochokinesia (DDK) is a symptom of ataxia often seen in people with multiple sclerosis. DDK most often affects the muscles in the arms, legs, and larynx. As a result, people with DDK have difficulty performing rapid, alternating movements, which can lead to issues with coordination and speech.
Vor 4 Tagen · Fragile X-associated tremor/ataxia syndrome (FXTAS) is a hereditary neurodegenerative disorder caused by a mutation on the X chromosome. The major signs and symptoms are tremor, ataxia and parkinsonism. Up to one in 2 000 persons over 50 years of age will develop the syndrome.
- Gry Hoem, Jeanette Koht
- 2017
Vor 2 Tagen · 12 July 2021 - EryDel SpA announced topline results from its Phase 3 ATTeST clinical trial in patients with Ataxia Telangiectasia (AT), a devastating neurological disease for which there is no approved therapy. EryDel SpA, a global late-stage biotech company aimed at developing and commercializing therapies for the treatment of rare ...
Vor 4 Tagen · A biallelic (AAGGG) expansion in the poly(A) tail of an AluSx3 transposable element within the gene RFC1 is a frequent cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS ...
