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Lysosomal storage disorders. Lipidoses (disorders of lipid storage) Neuronal ceroid lipofuscinoses. Infantile neuronal ceroid lipofuscinosis (INCL, Santavuori disease,) Jansky–Bielschowsky disease (late infantile neuronal ceroid lipofuscinosis) Sphingolipidoses. Niemann–Pick disease; Gaucher disease; Leukodystrophies. Adrenoleukodystrophy
Leprosy, also known as Hansen's disease (HD), is a long-term infection by the bacteria Mycobacterium leprae or Mycobacterium lepromatosis. [4] [7] Infection can lead to damage of the nerves, respiratory tract, skin, and eyes. [4]
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
The “New York patient.”The first woman and person of mixed-race ancestry possibly to be cured, she was diagnosed with leukemia in 2017 and received a stem cell transplant augmented with ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Choroideremia is an inherited genetic eye disease with no approved treatment, leading to loss of sight. In March researchers reported that 12 HIV patients had been treated since 2009 in a trial with a genetically engineered virus with a rare mutation ( CCR5 deficiency) known to protect against HIV with promising results.
Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10–25% of cases. [13] Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in antibody production.
Chagas disease is caused by Trypanosoma cruzi and is mostly spread by Triatominae. It is endemic to 21 countries in Latin America. There are over 30,000 new cases per year and 12,000 deaths due to the disease. [143] Eradication efforts focus on the elimination of vector-borne transmission and the elimination of the vectors themselves. [143]
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