spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder caused by homozygous deletion of the survival motor neuron gene 1 (smn1) in more than 90% of patients. according to the age of onset and severity of the disease, sma is classified into three groups: type i (severe), type ii (intermediate) and type iii (mild). as reported, the smn2 gene, centromeric copy gene, showed ...

An uncommon variety of non familial, juvenile onset, spinal muscular atrophy with asymmetric distal upper extremity affection is described. One hundred and two patients with a one to 14 year follow up are analysed. Spinal muscular atrophies with a distal distribution are rare. However, in the past three decades, previously unrecognised varieties of neurogenic muscular atrophy have been describe...

BACKGROUND Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, invariably lethal disease resulting from the premature death of motor neurons of the motor cortex, brainstem, and spinal cord. In approximately 15% of familial ALS cases, the copper/zinc superoxide dismutase gene is mutated; a juvenile form of familial ALS has been linked to chromosome 2. No cause has been identified in th...

随意運動は主として上位運動ニューロン，下位運動ニューロン，骨格筋により制御されるが，そのうち下位運動ニューロンが選択的に変性する疾患が下位運動ニューロン疾患であり，その代表的なものが球脊髄性筋萎縮症と脊髄性筋萎縮症である．両疾患はいずれも遺伝性疾患であり，分子病態に即した疾患修飾治療法が開発・実用化され，リアルワールドエビデンスの構築に向けた研究も進んでいる．さらに脊髄性筋萎縮症については，新生児スクリーニングによる発症前の診断・治療が進んでいる．


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Introduction (1) Spinal muscular atrophy (SMA) (1 : 6000 newborns) [1] Degeneration of anterior horn cells (motor neurons) in the spinal cord Weakness and muscular atrophy Four types of SMA SMA type II is characterized by the ability to maintain an unsupported sitting position. In patients with SMA type II: • problems with mouth opening, chewing, swallowing (more with solid food) and choking mo...

OBJECTIVES Molecular-genetic analysis is a determining step in setting the diagnosis of spinal and bulbar muscular atrophy (SBMA). We present the first nation-wide study and experience with this disease and its diagnosis in Slovakia. The study is enriched by comparison of genetic findings from Slovak patients to patients from other countries. METHODS Molecular-genetic analysis was performed f...