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Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset.
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
It was originally thought [5] that raised CSF protein without pleocytosis ('albuminocytological dissociation') was a characteristic feature, as it is in Guillain–Barré syndrome, but this has not been supported in more recent work. [7] In only 30% of cases is an MRI brain scan abnormal. Nerve conduction studies may show an axonal ...
The median age at diagnosis is 28 years of age, [7] and life expectancy is mildly decreased. [8] Type II (one or two alleles L444P) is characterized by neurological problems in small children. The enzyme is hardly released into the lysosomes. Prognosis is poor: most die before the age of three.
The average lifespan after the onset of symptoms in patients with MSA is 6–10 years. [4] Approximately 60% of patients require a wheelchair within five years of onset of the motor symptoms, and few patients survive beyond 12 years. [4] The disease progresses without remission at a variable rate.
Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness ...
The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo-ocular reflex. The syndrome was initially described in 2004. [1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the ...
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]