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In all, seven genetic variants were cited by two or more contestants; four were judged worthy of further investigation, including variants of two genes never before associated with nemaline myopathy.
Other diseases of connection to Ashkenazi Jews are Familial Hyperinsulinism, Joubert Syndrome Type 2, Lipoamide Dehydrogenase Deficiency (E3), Nemaline Myopathy, Spinal Muscular Atrophy (SMA), Usher Syndrome Type 3, Usher Syndrom Type I, and Walker Warburg Syndrome.
In her searingly honest memoir Fragile, Niki recounts her pregnancy and the birth and first year in the lives of her tiny twins Theo and Felix who were only diagnosed with the condition Nemaline Myopathy after the tragic death of Theo at just seven months.
cystic fibrosis, fragile X syndrome and spinal muscular atrophy), tests for hemoglobinopathies (sickle cell anemia, alpha thalassemia and beta thalassemia) and routine tests for the Ashkenazi Jewish population, Good Start now offers the following additional tests: dihydrolipoamide dehydrogenase deficiency, familial hyperinsulinism, glycogen storage disease type 1a, Joubert syndrome 2, maple syrup urine diseases type A/B, nemaline myopathy, Usher syndrome type 1F, Usher syndrome type III, and Walker-Warburg syndrome.
Our son has a neuromuscular disease, called nemaline myopathy, which is a rare form of muscular dystrophy.
These diseases range from the more familiar Tay-Sachs disease to lesser-known diseases such as Walker-Warburg Syndrome and Nemaline Myopathy.
Lauren was born with congenital nemaline myopathy, a form of muscular dystrophy, and her parents, Linda and Peter, quickly realized that assistive technology could play an important role in her life.