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SPATCCM is an incurable genetic disease, however patients are often treated with anti-epileptics including vigabatrin, topiramate or clobazam, to reduce associated seizures. [ 4 ] [ 8 ] Supplementation of L-serine has also been proposed as a treatment.
There is no known cure for microcephaly. [3] Treatment is symptomatic and supportive. [3] Because some cases of microcephaly and its associated symptoms may be a result of amino acid deficiencies, treatment with amino acids in these cases has been shown to improve symptoms such as seizures and motor function delays. [69]
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Patients may develop seizures and/or neuropathological spasms. These presentations of the disease usually progress to mental retardation, microcephaly, blindness, and spasticity. [5] [6] [7] Females with residual pyruvate dehydrogenase activity will have no uncontrollable systemic lactic acidosis and few, if any, neurological symptoms.
Although cats are obligate carnivores, vegetarian and vegan cat food are preferred by owners uncomfortable with feeding animal products to their pets. The U.S. Food and Drug Administration Center for Veterinary Medicine has come out against vegetarian cat and dog food for health reasons. Cats require high levels of taurine in their diet.
Achalasia microcephaly; Chest x-ray of an individual with achalasia. The arrows point to the areas of extreme esophageal dilation. Symptoms: Manifestation of achalasia: regurgitation, vomiting and dysphagia, alongside diagnosis of microcephaly: abnormally small head size below the third percentile as well as mild to moderate mental retardation.
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Microcephaly, large eyes, beak-like nose, narrow face, retrognathism, malocclusion; Mental handicap; Agenesis of the corpus callosum, cerebral cysts; Other abnormalities can be a supportive criteria, such as: anemia, pancytopenia, cleft lip/palate scoliosis or kyphoscoliosis. [8] Genetic testing can confirm diagnosis. [5]
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