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Biotin-thiamine-responsive Basal Ganglia Disease
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 pre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Basal Ganglia
The basal ganglia (BG) or basal nuclei are a group of subcortical Nucleus (neuroanatomy), nuclei found in the brains of vertebrates. In humans and other primates, differences exist, primarily in the division of the globus pallidus into external and internal regions, and in the division of the striatum. Positioned at the base of the forebrain and the top of the midbrain, they have strong connections with the cerebral cortex, thalamus, brainstem and other brain areas. The basal ganglia are associated with a variety of functions, including regulating voluntary motor control, motor movements, procedural memory, procedural learning, habituation, habit formation, conditional learning, eye movements, cognition, and emotion. The main functional components of the basal ganglia include the striatum, consisting of both the dorsal striatum (caudate nucleus and putamen) and the ventral striatum (nucleus accumbens and olfactory tubercle), the globus pallidus, the ventral pallidum, the substa ... [...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.Ropper A, Brown R. Princ. of Neurology, Adams & Victor. 8º ed. McGraw Hill 2007. 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 particular to malnourished people with alcohol misuse, it can be caused by a variety of diseases. It is treated with thiamine supplementatio ... [...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 and signs 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 yea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sydenham's Chorea
Sydenham's chorea, also known as rheumatic chorea, is a disorder characterized by Chorea, 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 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 (although pregnancy and female hormone treatment are also potential causes). It is historically one of the conditions calle ... [...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. Signs and symptoms 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 organ systems. Most are inherited as autosomal recessive diseases. Diagnosis Org ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly Genetic disorder#Autosomal dominant, inherited. It typically presents as a triad of progressive psychiatric, cognitive, and motor symptoms. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities, which precede the motor symptoms for many people. The definitive physical symptoms, including a general Ataxia, lack of coordination and an unsteady human gait, gait, eventually follow. Over time, the basal ganglia region of the brain gradually Basal ganglia disease#Huntington's disease, becomes damaged. The disease is primarily characterized by a distinctive hyperkinesia, hyperkinetic movement disorder known as ''chorea.'' Chorea classically presents as uncoordinated, involuntary, "dance-like" body movements that become more apparent as the disease advances. Physical abilities gradually worsen until Motor coordination, coordinated mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thiamine
Thiamine, also known as thiamin and vitamin B1, is a vitamin – an Nutrient#Micronutrients, essential micronutrient for humans and animals. It is found in food and commercially synthesized to be a dietary supplement or medication. Phosphorylated forms of thiamine are required for some Metabolism, metabolic reactions, including the breakdown of Carbohydrate metabolism, glucose and amino acids. Food sources of thiamine include whole grains, legumes, and some meats and fish. Refined grain, Grain processing removes much of the vitamin content, so in many countries cereals and flours are food fortification, enriched with thiamine. Supplements and medications are available to treat and prevent thiamine deficiency and the disorders that result from it such as Thiamine deficiency#Dry beriberi, beriberi and Wernicke encephalopathy. They are also used to treat maple syrup urine disease and Leigh syndrome. Supplements and medications are typically taken Route of administration#Oral ... [...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 ..., 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 pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ptosis (eyelid)
Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. 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, so it is especially important to treat the disorder in children before it can interfere with vision development. 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, uninterested or even sinister. * The eyelid may not protect the eye as effectively, allowing it to dry. * Sagging upper eyelids can partially block the field of view. * Obstructed vision may necessitate tilting the head backward to speak. * The areas around the eyes may become tired and achy. * Eyebrows may be constantly lifted to see properly. Some of the risk factors for ptos ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
