Non-progressive Congenital Ataxia

	Non-progressive Congenital Ataxia Non-progressive congenital ataxia (NPCA) is a non-progressive form of cerebellar ataxia which can occur with or without cerebellar hypoplasia. Cause NPCA is a syndrome and can have diverse causes. It has a genetic basis and inheritance is considered to be autosomal recessive. However, autosomal dominant variety has also been reported. There may be familial balanced translocation t(8;20)(p22;q13) involved. Diagnosis Neuroimaging like MRI Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves ... is important. However, there was considerable intrafamilial variability regarding neuroimaging, with some individuals showing normal MRI findings. Early individual prognosis of such autosomal recessive cerebellar ataxias is not possible from early developmental milestones, neurological signs, or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Non-progressive Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. Some progressive diseases can be halted and reversed by treatment (surgical, dietary, or lifestyle interventions). Many can be slowed by medical therapy. Some cannot be altered by current treatments. Though the time distinctions are imprecise, diseases can be ''rapidly progressive'' (typically days to weeks) or ''slowly progressive'' (months to years). The time course of a disease affects whether it is considered acute or chronic. By definition, virtually all slowly progressive diseases are also chronic diseases. Biologically, many of these are also referred to as degenerative diseases due to the cellular changes. Not all chronic diseases are progressive: a chronic, non-progressive disease may be referred to as a ''static'' condition. ''Progressive dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Cerebellar Ataxia Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. Deficits are observed with movements on the same side of the body as the lesion (ipsilateral). Clinicians often use visual observation of people performing motor tasks in order to look for signs of ataxia. Signs and symptoms Damage to the cerebellum causes impairment in motor skills and can cause nystagmus. Almost a third of people with isolated, late onset cerebellar ataxia go on to develop multiple system atrophy. The cerebellum's role has been observed as not purely motor. It is combined with intellect, emotion and planning. Cerebellar defi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Cerebellar Hypoplasia Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorders of cerebellar maldevelopment presenting as early-onset non–progressive congenital ataxia, hypotonia and motor learning disability. Various causes have been incriminated, including hereditary, metabolic, toxic and viral agents. It was first reported by French neurologist Octave Crouzon in 1929. In 1940, an unclaimed body came for dissection in London Hospital and was discovered to have no cerebellum. This unique case was appropriately named "human brain without a cerebellum" and was used every year in the Department of Anatomy at Cambridge University in a neuroscience course for medical students. Cerebellar hypoplasia can sometimes present alongside hypoplasia of the corpus callosum or pons. It can also be associated with hydrocephalus or an enlarged fourth ventricle; this is called Dandy–Walker malformation. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Autosomal Recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Autosomal Dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Autosomal Recessive Cerebellar Ataxia Autosomal recessive cerebellar ataxia () describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia. It may refer to: * Autosomal recessive cerebellar ataxia type 1, autosomal recessive ataxia, Beauce type * Autosomal recessive cerebelloparenchymal disorder type 3 * Dysequilibrium syndrome * CAMOS syndrome * Cerebellar ataxia, Cayman type * Joubert syndrome with oculorenal defect * Joubert syndrome * Joubert syndrome with hepatic defect * Orofaciodigital syndrome type 6 * Joubert syndrome with ocular defect * Joubert syndrome with renal defect * Joubert syndrome with Jeune asphyxiating thoracic dystrophy * Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency * Congenital cerebellar ataxia due to RNU12 mutation * Ataxia with vitamin E deficiency * Abetalipoproteinemia * Refsum disease * Cerebrotendinous xanthomatosis * Infantile Refsum disease * Recessive mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Systemic Atrophies Primarily Affecting The Central Nervous System Systemic fundamental to a predominant social, economic, or political practice. This refers to: In medicine In medicine, ''systemic'' means affecting the whole body, or at least multiple organ systems. It is in contrast with ''topical'' or ''local''. * Systemic administration, a route of administration of medication so that the entire body is affected Systemic circulation, carries oxygenated blood from the heart to the body and then returns deoxygenated blood back to the heart Systemic disease, an illness that affects multiple organs, systems or tissues, or the entire body * Systemic effect, an adverse effect of an exposure that affects the body as a whole, rather than one part Systemic inflammatory response syndrome, an inflammatory state affecting the whole body, frequently in response to infection Systemic lupus erythematosus, a chronic autoimmune connective tissue disease that can affect any part of the body Systemic scleroderma, also known as systemic sclerosis, a system ... [...More Info...] [...Related Items...] OR:* [Wikipedia] [Google] [Baidu]