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Lafora disease is a rare, adult-onset and autosomal recessive [4] genetic disorder which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of inclusion bodies , known as Lafora bodies, within the cytoplasm of the cells in the heart , liver ...
Health outcomes for adults born prematurely are the long-term health effects for people who were born preterm, defined as being birthed at a gestational age of less than 37 weeks. It can be associated with and is often studied in the same group as low birth weight , but they are not the same, as preterms can also be large for gestational age .
The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life-threatening. [23] Myotonic muscular dystrophy: 160900 602668: DMPK CNBP: AD: Adulthood Skeletal muscles, heart, other muscle groups Presents with myotonia (delayed relaxation of muscles), as well as muscle wasting and weakness. [24]
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Life expectancy may be shortened by respiratory complications arising from weakness of the muscles that aid breathing and swallowing. It was first described in four patients by Vucic and colleagues [ 3 ] working at the Massachusetts General Hospital in the United States ; subsequent reports from the United Kingdom, [ 4 ] Europe and Asia [ 5 ...
Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth.
A British study from 2008 found a median estimated life expectancy of 8.7 years for patients with Hurler syndrome. In comparison, the median life expectancy for all forms of MPS type I was 11.6 years. Patients who received successful bone marrow transplants had a 2-year survival rate of 68% and a 10-year survival rate of 64%. Patients who did ...
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