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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 ...
It usually results from trauma which causes damage to the neck, leading to major injury to the central corticospinal tract of the spinal cord. [1] CCS most frequently occurs among older persons with cervical spondylosis, [2] however, it also may occur in younger individuals. [3] CCS is the most common incomplete spinal cord injury syndrome.
Symptoms usually manifest in the first 3 months of the child's life, with an average onset of 2.5 months. Frequently, some of these symptoms will manifest in the neonatal period. These paroxysmal symptoms are often used to help diagnose AHC, since there is no simple test for it. [citation needed]
Symptoms of motor neuron diseases can be first seen at birth or can come on slowly later in life. Most of these diseases worsen over time; while some, such as ALS, shorten one's life expectancy, others do not. [2] Currently, there are no approved treatments for the majority of motor neuron disorders, and care is mostly symptomatic. [2]
X-ray of the spine in a patient with spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ 3 ] The protein made by this gene forms type II collagen , a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous ).
From 2019 to 2021, U.S. life expectancy dropped from 78.8 years to 7 6.4. Covid deaths fell significantly last year: Whereas Covid was the fourth leading cause of death in 2022, it was the 10th in ...
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation , [ 3 ] or tethered spinal cord syndrome .