Hello everyone! Well today has definitely been a busy day and our Princess is a TV star! I would like to post a little bit about the disease that Ali has, it is hard to find information for this disease because it is so rare. So I will post a link to an article, but will also post only the relevant stuff as the article contains information about how the Iron shows up in the brain, as well as about PLA2G6 related dystonia-parkionsonism, since this gene also causes that. Ali does have the atypical form although she started showing symptoms around age 2-3. INAD usually begins between ages six months and three years with developmental regression, hypotonia, progressive psychomotor delay, and progressive spastic tetraparesis. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid. Many affected children never learn to walk or lose the ability shortly after attaining it. Severe spasticity, progressive cognitive decline, and visual impairment typically result in death during the first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability or ataxia (as in the classic form) or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. Predominant features: Onset before age 20 years Psychomotor regression Prominent expressive language difficulties and autistic-like behavior Disease progression slower than in classic disease Cerebellar atrophy Optic atrophy Progressive dystonia and dysarthria T2-weighted MRI of the brain: hypointense globus pallidus (indicating iron accumulation) Histopathologic evidence of dystrophic axons identical to that described for classic INAD Other common features: Psychiatric/behavioral abnormalities Spasticity (without preceding hypotonia) Joint contractures Seizures Nystagmus VEP: delayed with reduced amplitudes This information comes from: ncbi.nlm.nih.gov/books/NBK1675/
Posted on: Thu, 07 Aug 2014 03:24:37 +0000
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