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Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.
Source: GARD Last updated on 05-01-20
We were not able to find any published reports through PubMed, the database of published medical literature, textbooks, or medical websites which indicated the treatment of biotin and thiamine would stop working for a person with biotin-thiamine-responsive basal ganglia disease (BTRBGD).
The only information, which was consistently noted, is that the treatment in order to be effective must be begun early and must be continued throughout the child's lifetime.
Last updated on 05-01-20
We were not able to find any reports which suggested children with biotin- thiamine-responsive basal ganglia disease (BTRBGD) who are responding well to treatment will develop any symptoms in the future. The papers we found in fact reported that children who were diagnosed early in the course of the condition and were treated with both biotin and thiamine remained without symptoms.
We however were not able to find long term papers which reported following a child with BTRBGD being treated with thiamine and biotin throughout the course of their life, but that is because both the condition and combined treatment are relatively new. One study did follow an affected child for 8 years from ages 15 to 23 years old and found that the young person's symptoms decreased after beginning the treatment and then stabilized.
We were not able to find any reports of children, who were followed after being diagnosed either prenatally or pre-symptomatically. However this is likely because the ability to do so is relatively new. Since early diagnosis and treatment after only a single episode has resulted in very favorable outcomes, one would surmise a child who had no episodes and remained on treatment throughout her life, would have a very favorable outcome as well.
Last updated on 05-01-20
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