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Biotin-thiamine-responsive Basal Ganglia Disease (BTBGD)
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare disease that affects the nervous system, particularly the basal ganglia in the brain. It is a treatable neurometabolic disorder with autosomal recessive inheritance. First described in 1998 and then genetically distinguished in 2005, the disease is characterized by progressive brain damage that, if left untreated, can lead to coma and/or death. Commonly observed in individuals with BTBGD is recurring subacute encephalopathy along with confusion, seizures, and disordered movement (hypokinesia). BTBGD has several alternate names, including: * BTRBGD * Biotin-responsive basal ganglia disease (BBGD) * Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine-responsive type) (THMD2) * Thiamine-responsive encephalopathy * Thiamine transporter-2 deficiency Signs and Symptoms The onset of signs and symptoms can occur at any age but is most common in childhood between the ages of 3 and 10. Less commonly, it may pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Basal Ganglia
The basal ganglia (BG), or basal nuclei, are a group of subcortical nuclei, of varied origin, in the brains of vertebrates. In humans, and some primates, there are some differences, mainly in the division of the globus pallidus into an external and internal region, and in the division of the striatum. The basal ganglia are situated at the base of the forebrain and top of the midbrain. Basal ganglia are strongly interconnected with the cerebral cortex, thalamus, and brainstem, as well as several other brain areas. The basal ganglia are associated with a variety of functions, including control of voluntary motor movements, procedural learning, habit learning, conditional learning, eye movements, cognition, and emotion. The main components of the basal ganglia – as defined functionally – are the striatum, consisting of both the dorsal striatum (caudate nucleus and putamen) and the ventral striatum (nucleus accumbens and olfactory tubercle), the globus pallidus, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wernicke Encephalopathy
Wernicke encephalopathy (WE), also Wernicke's encephalopathy, or wet brain is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). The condition is part of a larger group of thiamine deficiency disorders that includes beriberi, in all its forms, and alcoholic Korsakoff syndrome. When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome. Classically, Wernicke encephalopathy is characterised by a triad of symptoms: ophthalmoplegia, ataxia, and confusion. Around 10% of patients exhibit all three features, and other symptoms may also be present. While it is commonly regarded as a condition peculiar to malnourished people with alcohol misuse, it can be caused by a variety of diseases. It is treated with thiamine supplementation, which can lead to improvement of the symptoms and often complete resolution, particul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trihexyphenidyl
Trihexyphenidyl (THP, benzhexol, trihex, marketed as Artane and others) is an antispasmodic drug used to treat stiffness, tremors, spasms, and poor muscle control. It is an agent of the antimuscarinic class and is often used in management of Parkinson's disease. It was approved by the FDA for the treatment of Parkinson's in the US in 2003. It is on the World Health Organization's List of Essential Medicines. Medical uses Trihexyphenidyl is used for the symptomatic treatment of Parkinson's disease in mono and combination therapy. It is active in postencephalitic, arteriosclerotic, and idiopathic forms. The drug is also commonly used to treat extrapyramidal side effects occurring during antipsychotic treatment. It reduces the frequency and duration of oculogyric crises as well as of dyskinetic movements and spastic contractions. Trihexyphenidyl may improve psychotic depression and mental inertia frequently associated with Parkinson's disease and symptomatic problems caused ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wilson's Disease
Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis. Wilson's disease is caused by a mutation in the Wilson disease protein (''ATP7B'') gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for a person to be affected, they must inherit a mutated copy of the gene from both parents. Diagnosis may be difficult and often involves a combination of blood tests, urine tests and a liver biopsy. Genetic testing may be used to screen family members of those affected. Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tyrosine Hydroxylase Deficiency
Tyrosine hydroxylase deficiency (THD) is a disorder caused by disfunction of tyrosine hydroxylase, an enzyme involved in the biosynthesis of dopamine. This condition is one of the causes of dopa-responsive dystonia. Symptoms Patients present with symptoms reflecting the decreased production of dopamine: hypokinetic-rigid syndrome, dystonia, complex encephalopathy. Symptom severity and age at onset are highly variable. A review published on GeneReviews and last updated in 2017 suggests the approximate subdivision of patients into three groups based on differences in severity of symptoms, nature of symptoms, and age at onset. A review published more recently, in 2021, suggests that the disease may have a more gradual and overlapping spectrum, and categorization may be imprecise. According to the classification on GeneReviews, three approximate phenotypes could be discerned: * 1. TH-deficient dopa-responsive dystonia - the mildest phenotype with onset between 1 and 12 years of age, w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sydenham's Chorea
Sydenham's chorea, also known as rheumatic chorea, is a disorder characterized by rapid, uncoordinated jerking movements primarily affecting the face, hands and feet. Sydenham's chorea is an autoimmune disease that results from childhood infection with Group A beta-haemolytic ''Streptococcus''. It is reported to occur in 20–30% of people with acute rheumatic fever and is one of the major criteria for it, although it sometimes occurs in isolation. The disease occurs typically a few weeks, but up to 6 months, after the acute infection, which may have been a simple sore throat (pharyngitis). Sydenham's chorea is more common in females than males, and most cases affect children between the ages of 5 and 15 years of age. Adult onset of Sydenham's chorea is comparatively rare, and the majority of the adult cases are recurrences following childhood Sydenham's chorea. It is historically one of the conditions called '' St Vitus' dance''. Signs and symptoms Sydenham's chorea is chara ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sepiapterin Reductase Deficiency
Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR deficiency is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but the lack of overall awareness and the need for a series of atypical procedures used to diagnose this condition pose a dilemma.Lohmann, E., Koroglu, C., Ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organic Acidemia
Organic acidemia, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present. The branched-chain amino acids include isoleucine, leucine and valine. Organic acids refer to the amino acids and certain odd-chained fatty acids which are affected by these disorders. The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease. Cause Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism. Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organs systems. Most are inherited as autosomal recessive diseases. Diagnosis Organic acidemias are us ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age but can start at any age. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as ''juvenile HD'', which typically present with the slow movement symptoms of Parkinson's d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thiamine
Thiamine, also known as thiamin and vitamin B1, is a vitamin, an essential micronutrient, that cannot be made in the body. It is found in food and commercially synthesized to be a dietary supplement or medication. Phosphorylated forms of thiamine are required for some metabolic reactions, including the breakdown of glucose and amino acids. Food sources of thiamine include whole grains, legumes, and some meats and fish. Grain processing removes much of the vitamin content, so in many countries cereals and flours are enriched with thiamine. Supplements and medications are available to treat and prevent thiamine deficiency and disorders that result from it include beriberi and Wernicke encephalopathy. They are also used to treat maple syrup urine disease and Leigh syndrome. Supplements and medications are typically taken by mouth, but may also be given by intravenous or intramuscular injection. Thiamine supplements are generally well tolerated. Allergic reactions, including ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thiamine Transporter 2
Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the ''SLC19A3'' gene. SLC19A3 is a thiamine transporter. Function ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. It is specifically inhibited by chloroquine. Clinical significance Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis Tetraplegia, also known as quadriplegia, is defined as the dysfunction or loss of motor and/or sensory function in the cervical area of the spinal cord. A loss of motor function can present as either weakness or paralysis leading to partial or t ..., and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early prog ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ptosis (eyelid)
Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. The drooping may be worse after being awake longer when the individual's muscles are tired. This condition is sometimes called "lazy eye", but that term normally refers to the condition amblyopia. If severe enough and left untreated, the drooping eyelid can cause other conditions, such as amblyopia or astigmatism. This is why it is especially important for this disorder to be treated in children at a young age, before it can interfere with vision development. The term is from Greek 'fall, falling'. Signs and symptoms Signs and symptoms typically seen in this condition include: * The eyelid(s) may appear to droop. * Droopy eyelids can give the face a false appearance of being fatigued, disinterested, or even sinister. * The eyelid may not protect the eye as effectively, allowing it to dry out. * Sagging upper eyelids can partially block the person's field of view. * Obstructed vision may cause ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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