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Naked foal syndrome (NFS) is a genetic disorder specific to the Akhal-Teke horse breed. A rare genodermatosis , it is characterized by almost complete hairlessness and mild ichthyosis . The condition is inherited as a monogenic autosomal recessive trait, and affected horses typically die between a few weeks and three years of age.
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [ 2 ]
Since then many case studies have followed to understand the underlying conditions, symptoms and causes of the disease. The largest study of retrospective childhood ACA was done in 1994 by Connolly. This disease is still commonly used as a reference in clinical practice for other inflammatory and autoimmune disorders of the nervous system.
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
Visual symptoms including loss of vision or double vision; Speech symptoms including dysphonia (whispering speech), slurred or stuttering speech; Sensory disturbance including hemisensory syndrome (altered sensation down one side of the body) Numbness or inability to sense touch; Dizziness and balance problems; Pain (including chronic migraines)
When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome. [3] [4] Classically, Wernicke encephalopathy is characterised by a triad of symptoms: ophthalmoplegia, ataxia, and confusion. Around 10% of patients exhibit all three features, and other symptoms may also be present. [5]
COVID-19 can show up later than the cold or flu, the Mayo Clinic says. Meanwhile, a cold infection doesn’t usually cause fever or headache, but those are common with flu and COVID-19.
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.