Clinical features of spinal muscular atrophy in children
Authors:
J. Staněk
Authors place of work:
Oddělení dětské neurologie, FN Ostrava
Published in the journal:
Cesk Slov Neurol N 2020; 83/116(Supplementum 2): 8-12
doi:
https://doi.org/10.48095/cccsnn20202S8
Summary
Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by a loss of motor neurons in the anterior horn of the spinal cord and by resultant progressive, mainly proximal, weakness. A phenotypic spectrum includes pulmonary, gastrointestinal, nutritional complications, scoliosis and contractures. The most common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA associated with mutations in the survival of motor neurons (SMN1) gene. It is a rare disorder with the incidence 1 : 6,000–1 : 10,000. The clinical spectrum ranges from early infant death to normal adult life with only mild weakness. SMA is classified into four types depending on the age of onset and highest level of motor function achieved. Actual treatment and multidisciplinary care change the course of the disease and improve life expectancy and quality of life.
Keywords:
spinal muscular atrophy – classification of spinal muscular atrophy – phenotype spinal muscular atrophy
Zdroje
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Štítky
Paediatric neurology Neurosurgery NeurologyČlánok vyšiel v časopise
Czech and Slovak Neurology and Neurosurgery
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Najčítanejšie v tomto čísle
- Clinical manifestations of spinal muscular atrophy in adult patients
- Genetics of spinal muscular atrophy
- Therapy of spinal muscular atrophy
- Rehabilitation in spinal muscular atrophy