Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.
This is the mildest form of child onset SMA. People with Type III will vary greatly. However the prognosis is very good. The person with Type III may show difficulty with walking and/or getting up from a sitting or bent over position & negotiating stairs. Balance can be a problem, causing falls, sometimes assistance in getting up is needed. General muscle weakness has an impact on daily living. An assessment may be helpful to identify where the person needs additional aids or adaptations to enable them to live as independently as possible. Children with SMA have enhanced intelligence and usually attend main stream school.
Spinal shock was first defined by Whytt in 1750 as a loss of sensation accompanied by motor paralysis with initial loss but gradual recovery of reflexes, following a spinal cord injury (SCI) -- most often a complete transection. Reflexes in the spinal cord caudal to the SCI are depressed (hyporeflexia) or absent (areflexia), while those rostral to the SCI remain unaffected. Note that the 'shock' in spinal shock does not refer to circulatory collapse
Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right. types of Spinocerebellar ataxia. The first ataxia gene was identified in 1993 for a dominantly inherited type. It was called “Spinocerebellar ataxia type 1" (SCA1). Subsequently, as additional dominant genes were found they were called SCA2, SCA3, etc. Usually, the "type" number of SCA refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations which have been found.
Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. SCA13 is cased by mutations in KCNC3, a gene encoding a voltage-gated potassium channel KV3.3. There are two known mutations in this gene causative for SCA13. Unlike many other types of SCA, these are not polyglutamine expansions but, rather, point mutations resulting in channels with no current or altered kinetics
Spinocerebellar ataxia 14: A rare genetic disorder (chromosome 19q13.4qter defect) characterized by gait ataxia, tremors and dysarthria (speech disorder). The condition progresses slowly.
Spinocerebellar ataxia 18: A rare genetic disorder (chromosome 7q22-31 defect) characterized by muscle atrophy and sensory loss. The severity of symptoms is variable. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
Spinocerebellar ataxia 19: A rare genetic disorder (chromosome 1p21-q21 defect) characterized by mild cognitive impairment and myoclonus. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
Spinocerebellar ataxia 2: A disorder involving degeneration of the brain and spinal cord and causing progressive coordination difficulty and other symptoms. Symptom generally become more severe earlier than in spinocerebellar ataxia 1.
Spinocerebellar ataxia 20: A rare genetic disorder (chromosome 11 defect) characterized by palatal tremor and dysphonia. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
Spinocerebellar ataxia 21: A rare genetic disorder (chromosome 7p21.3-p15.1 defect) characterized by extrapyramidal features and cognitive impairment. The condition progresses slowly over decades. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
Spinocerebellar ataxia 23: A rare genetic disorder (chromosome 20p13-12.3 defect) characterized by ataxia, sensory loss and pyramidal signs. It is a slowly progressing condition.
Spinocerebellar ataxia 25: A rare genetic disorder (chromosome 2p15-p21 defect) characterized by sensory neuropathy and damage to the motor control part of the brain (cerebellar atrophy) resulting in ataxia. It is a slow progressing condition.
Spinocerebellar ataxia 26: A rare genetic disorder (chromosome 19p13.3 defect) characterized by slowly progressive ataxia and dysarthria (speech disorder).
Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia type
Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.
Spinocerebellar ataxia 4: An inherited disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as ataxia, sensory neuropathy and spastic paraplegia.
Spinocerebellar ataxia 5: A genetic disorder involving progressive degeneration of the spinal cord resulting in symptoms such as incoordination and eye movement problems.
Spinocerebellar ataxia type 6 (SCA6) is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, incontinence, peripheral neuropathy, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Unlike other types, SCA 6 is not fatal. This cerebellar function is permanent and progressive, differentiating it from episodic ataxia type 2 (EA2) where said dysfunction is episodic. In some SCA6 families, some members show these classic signs of SCA6 while others show signs more similar to EA2, suggesting that there is some phenotypic overlap between the two disorders. SCA6 is cased by mutations in CACNA1A, a gene encoding a calcium channel α subunit. These mutations tend to be trinucleotide repeats of CAG leading to stretches of glutamine greater than 19 and these mutant proteins form intracellular aggregations. Like many other polyglutamine expansion disorders, patients with longer expansions present with disease symptoms at an earlier age
Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by the expansion of a polyglutamine tract in the protein ataxin-7, a protein of unknown function. In order to analyze the expression pattern of wild type ataxin-7 in detail, the murine SCA7 gene homolog was cloned and the expression pattern in mice analyzed. The SCA7 mouse and human gene exhibit a high degree of identity at both DNA (88.2%) and protein (88.7%) level. The CAG repeat region, known to be polymorphic in man, is conserved in mouse but contained only five repeats in all mouse strains analyzed. The arrestin homology domain and the nuclear localization signal found in human ataxin-7 is also conserved in the murine homolog. Expression of ataxin-7 was detected during mouse embryonic development and in all adult mouse tissues examined by northern and western blots. In brain, immunohistological staining revealed an ataxin-7 expression pattern similar to that in human, with ataxin-7 expression in cerebellum, several brainstem nuclei, cerebral cortex and hippocampus. Our data show high conservation of ataxin-7 both structurally and at the level of expression, suggesting a conserved role for the protein in mice and humans.
Spinocerebellar ataxia is a genetically inherited disorder characterized by abnormal brain function that represents a varied group of disorders. It is most commonly inherited as a dominant trait, which means that any individual who is a carrier of one of the many different gene mutations is affected. It also means that a carrier will have a 50% percent chance of having an affected offspring, regardless of the genetic background of the reproductive mate. In this group of disorders, the brain and spinal cord degenerate.Individuals affected with spinocerebellar ataxia develop a degenerative condition that affects a region in the base of the brain called the cerebellum located behind the brainstem. The primary function of the cerebellum is to coordinate the body's ability to move. Loss of this quintessential function leads to a progressive atrophy, or wasting away of muscles. The spine also atrophies and this can lead to spasticity. Spinocerebellar ataxia can be physically devastating and the progressive loss of the ability to coordinate movements in emotional complications and significant lifestyle changes. The adverse effects involve the legs, hands, and the speech. Currently, there are 11 types of spinocerebellar ataxia. As there are many different genes mutations that cause this disease, there are different names for each type. The different types have numerical assignments as nomenclature. For example, Spinocerebellar ataxia type 1 is also known as SCA1. The numbers span from 1-25 (there is no SCA9) and are designated based on the time at which they were identified and characterized. Spinocerebellar ataxia is the same disease as spinal cerebellar ataxia.
Spinocerebellar ataxia - amyotrophy - deafness: A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.
Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance
Spinocerebellar ataxia type 37 (SCA37) is characterized by adult onset, dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements (dysmetric vertical saccades, irregular and slow vertical smooth pursuit, slow vertical optokinetic nystagmus, and oscillopsia (visual disturbance in which objects appear to oscillate). In most individuals, the initial signs/symptoms include falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. A distinctive clinical feature is the presence of altered vertical eye movements in early stages of the disease, even preceding ataxia symptoms. Clinical progression is slow and affected individuals usually become wheelchair bound between ten and 33 years after disease onset.
Spinocerebellar ataxia, autosomal recessive 1: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.
Spinocerebellar ataxia, autosomal recessive 4: A rare neurological disorder caused by a genetic defect (chromosome 1p36, recessive) and resulting in ataxia and eye movement problems.