Late-onset spinal motor neuronopathy - a common form of dominant SMA
| Autor: | Bjarne Udd, Sanna Huovinen, Anna Maija Saukkonen, Christopher Lindberg, J. Toivanen, Peter Baumann, Manu Jokela, Sini Penttilä |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Late onset Disease Muscular Atrophy Spinal Fasciculation Physical medicine and rehabilitation Genetic linkage medicine Humans Age of Onset Genetics (clinical) Aged Genes Dominant business.industry Haplotype Muscle weakness Middle Aged SMA ta3124 Pedigree Neurology Pediatrics Perinatology and Child Health Cohort Neurology (clinical) medicine.symptom business |
| Zdroj: | Neuromuscular Disorders. 24(3):259-268 |
| ISSN: | 0960-8966 |
| Popis: | We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2-q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. |
| Databáze: | OpenAIRE |
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