Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients.
Miguel Oliveira SantosMarta GromichoAna Pronto-LaborinhoMamede de CarvalhoPublished in: Brain sciences (2023)
Amyotrophic lateral sclerosis (ALS) and myopathy have been already described as part of a common genetic syndrome called multisystem proteinopathy. They may occur together or not, and can be associated with other clinical features such as frontotemporal dementia and Paget's bone disease. In addition, primary skeletal muscle involvement has been also reported in inherited forms of lower motor neuron disease, in spinal-bulbar muscular atrophy and in spinal muscular atrophy. We aim to characterize three sporadic, spinal-onset ALS patients, one with a concurrent non-specific myopathy, and two with a previous diagnosis of myopathy before upper and lower motor neuron signs emerged. Perhaps our sporadic ALS cases associated with myopathy share a common, but still unknown, pathogenic background. These cases raise the paradigm of a possible interplay between skeletal muscle degeneration and motor neuron damage.
Keyphrases
- amyotrophic lateral sclerosis
- late onset
- skeletal muscle
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- spinal cord
- prognostic factors
- insulin resistance
- oxidative stress
- gene expression
- muscular dystrophy
- squamous cell carcinoma
- dna methylation
- metabolic syndrome
- patient reported outcomes
- radiation therapy
- copy number
- postmenopausal women