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Primary lateral sclerosis (PLS) usually presents with gradual-onset, progressive, lower-extremity stiffness and pain due to muscle spasticity. Onset is often asymmetrical. [ 2 ] Although the muscles do not appear to atrophy as in ALS (at least initially), the disabling aspect of PLS is muscle spasticity and cramping, and intense pain when those ...
[1] [2] They include amyotrophic lateral sclerosis (ALS), [3] [4] progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS. Motor neuron diseases affect both children and ...
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or (in the United States) Lou Gehrig's disease (LGD), is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. [3]
Juvenile primary lateral sclerosis has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell are altered. Juvenile primary lateral sclerosis ( JPLS ) also known as primary lateral sclerosis, juvenile ( PLSJ ), is a very rare genetic disorder , with a small number of reported cases, characterized by ...
This includes amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.
The clinical underpinnings of two of the most common spasticity conditions, spastic cerebral palsy and multiple sclerosis, can be described as follows: in spastic diplegia, the upper motor neuron lesion arises often as a result of neonatal asphyxia, while in conditions like multiple sclerosis, spasticity is thought by some to be as a result of ...
The cause of PBP is unknown. One form of PBP is found to occur within patients that have a CuZn-superoxide dismutase (SOD1) mutation. [7] Progressive bulbar palsy patients that have this mutation are classified with FALS patients, Familial ALS (FALS) accounts for about 5%-10% of all ALS cases and is caused by genetic factors.
74018 Ensembl ENSG00000003393 ENSMUSG00000026024 UniProt Q96Q42 Q920R0 RefSeq (mRNA) NM_001135745 NM_020919 NM_001159948 NM_028717 NM_146109 RefSeq (protein) NP_001129217 NP_065970 NP_001153420 NP_082993 NP_666221 Location (UCSC) Chr 2: 201.7 – 201.78 Mb Chr 1: 59.2 – 59.28 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alsin is a protein that in humans is encoded by the ALS2 ...