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Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right.
[12] [15] Patients display muscle weakness and cerebellar and ocular malformations, with a life expectancy of less than 1 year. [ 9 ] [ 15 ] An additional dystroglycanopathy phenotype is Fukuyama congenital muscular dystrophy (FCMD) caused by a mutation in the Fukutin (FKTN) gene, which is the second most common type of muscular dystrophy in ...
A neurological disease refers to any ailment of the central nervous system, including abnormalities of the brain, spinal cord and other connecting nerve fibres. [8] Where millions of people are affected by neurological diseases on a worldwide scale, [8] it has been identified that the number of different types of neurological diseases exceeds six hundred, [9] any of which an individual can incur.
In untreated SMA type II, the course of the disease is slower to progress and life expectancy is less than the healthy population. Death before the age of 20 is frequent, although many people with SMA live to become parents and grandparents. SMA type III has normal or near-normal life expectancy if standards of care are followed.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
In the spine, there is bone formation along the anterior longitudinal ligament and sometimes the posterior longitudinal ligament, which may lead to partial or complete fusion of adjacent vertebrae. The facet and sacroiliac joints tend to be uninvolved. The thoracic spine is the most common level involved. [2]
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[1] [2] For consensus, generally, the term congenital muscular dystrophy refers to a diverse group of childhood onset muscle diseases -usually occurring the first two years of life- and mostly inherited through an autosomal recessive mode. Congenital muscular dystrophies have known phenotype-genotype profiles and produce muscle degenerative ...
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