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Progressive spinal muscular atrophy
- ... Rivera syndrome SMA-PME SMAPME Genetic Testing Registry: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic ...
- ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal ...
- Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Degenerative Nerve Diseases/Start Here ... Degenerative Nerve Diseases ... National Institute of Neurological ...
- ... the ASAH1 gene have been found to cause spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). This condition is characterized ... Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. Clin Genet. 2014 Dec;86(6): ...
- Spinal Muscular Atrophy (National Library of Medicine)What is spinal muscular atrophy (SMA)? Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills motor neurons. Motor neurons ...
- ... is a group of inherited disorders that cause progressive muscle degeneration and weakness.
- Epilepsy (National Library of Medicine)Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out ...
- ... associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 Sep;41(9): ...
- ... damage to specialized neurons in the brain and spinal cord that control muscle movement (motor neurons). Damage to motor neurons leads to progressive weakness and loss of muscle tissue (atrophy) in the feet and legs. Research suggests that ...
- ... damage to specialized neurons in the brain and spinal cord that control muscle movement (motor neurons). Damage to motor neurons leads to progressive weakness and loss of muscle tissue (atrophy) in the feet and legs. HSPB1 gene variants ...