Metabolic syndrome is common in adults with 5q-spinal muscular atrophy and impacts quality of life and fatigue.

Autor: Bjelica B; Department of Neurology, Hannover Medical School, Hannover, Germany., Wohnrade C; Department of Neurology, Hannover Medical School, Hannover, Germany., Osmanovic A; Department of Neurology, Hannover Medical School, Hannover, Germany.; Essen Center for Rare Diseases (EZSE), University Hospital Essen, Essen, Germany., Schreiber-Katz O; Department of Neurology, Hannover Medical School, Hannover, Germany., Schuppner R; Department of Neurology, Hannover Medical School, Hannover, Germany., Greten S; Department of Neurology, Hannover Medical School, Hannover, Germany., Petri S; Department of Neurology, Hannover Medical School, Hannover, Germany.
Jazyk: angličtina
Zdroj: Muscle & nerve [Muscle Nerve] 2024 Aug; Vol. 70 (2), pp. 257-264. Date of Electronic Publication: 2024 Jun 14.
DOI: 10.1002/mus.28183
Abstrakt: Introduction/aims: Spinal muscular atrophy (SMA) is a multisystem disorder. We assessed metabolic syndrome (MetS) prevalence in adults with SMA and its association with motor function, quality of life (QoL), fatigue, and depression.
Methods: MetS was diagnosed using 2009 consensus criteria. Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), Fatigue Severity Scale (FSS), Beck Depression Inventory (BDI), and 36-Item Short Form Health Survey (SF-36) were recorded and correlations between muscle function, depression, fatigue, QoL, and MetS were analyzed.
Results: We included 36 individuals (18 males; mean age: 38.7 ± 14.6 years). MetS was present in 25.0%. The most common component of MetS was central obesity (69.7%). Nearly half of the SMA individuals exhibited at least one abnormal lipid level result. Individuals with MetS more frequently were SMA type 3 (77.8% vs. 37.0%, p = .02) and had higher levels of fatigue (48.4 ± 6.7 vs. 39.5 ± 11.6, p = .03) than those without MetS. No associations of the presence of MetS with ambulatory status or HFMSE/RULM scores were observed. SMA individuals with MetS scored significantly lower in mental and social domains of QoL and total SF-36 score (p = .04). We observed weak to moderate correlations between the presence of MetS and SMA type, presence of comorbidities, QoL, and fatigue.
Discussion: The frequency of MetS was modestly higher among adults with SMA than in the general population, particularly in SMA type 3. MetS was associated with reduced QoL and increased fatigue. Larger studies are needed to fully understand the significance of MetS in adults with SMA.
(© 2024 The Author(s). Muscle & Nerve published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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