WebSpasticity, sphincter disturbance, decreased vibratory sense, and muscle weakness increased with disease duration. Except for 1 family with electrophysiologic evidence of an axonal neuropathy, there were no clinical features by which the … WebSpasticiteit. (spastisch syndroom) Blijvend verhoogde spierspanning (= spiertonus) met als mogelijk gevolg vergroeiing en bewegingsbeperking. - Mogelijke behandelingen (o.a.) - …
Exome sequencing in a family with intellectual disability, early …
Web26 jan. 2024 · Here, we describe pathogenic variants in the ACO2 gene presenting as complex hereditary spastic paraplegia (HSP) with a new phenotype of episodic visual … WebBACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord. Previously described radiologic findings included nonspecific brain abnormalities such as brain atrophy and white matter lesions, as well as atrophy of the spinal cord. In our … dave ramsey car insurance help
Spasticity definition of spasticity by Medical dictionary
Web4 mrt. 2024 · Hereditary spastic paraplegia ( HSP) refers to a heterogeneous group of neurodegenerative conditions characterized by progressive degeneration of the … Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are t… WebHereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal dominant form of the disease in Europeans is HSP associated with mutations in the spastin gene (SPG4). Analysis of the gene SPG4 was carried out in 52 unrelated families with HSP from … dave ramsey car fleece