Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Randomized trial of daily high-dose vitamin D3 in patients with RRMS receiving subcutaneous interferon β-1a

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Author response: Nationwide prevalence and incidence study of neuromyelitis optica spectrum disorder in Denmark

    Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

  3. Fat oxidation is impaired during exercise in lipin-1 deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Secular trends in risk of stroke according to body mass index and blood pressure, 1976-2017

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Declining malformation rates with changed antiepileptic drug prescribing: An observational study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Absence of p.R50X Pygm read-through in McArdle disease cellular models

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

OBJECTIVE: To investigate the phenotypic features, with emphasis on muscle, in 40 patients with spinobulbar muscular atrophy (SBMA) using quantitative MRI, stationary dynamometry, questionnaires, and functional tests.

METHODS: Patients with genetically confirmed SBMA were included. MRI was used to describe muscle involvement and quantify muscle fat fractions of arm, back, and leg muscles. Muscle strength was assessed with a stationary dynamometer. All patients were evaluated with the SBMA functional rating scale and the 6-minute walk test among others. MRI and muscle strength results were compared with healthy controls.

RESULTS: Forty patients with SBMA were included. The muscle fat content was significantly higher in patients with SBMA than in controls: paraspinal fat fraction was 45% vs 33% in controls, thigh fat fraction 36% vs 14%, calf fat fraction 37% vs 15%, upper arm fat fraction 20% vs 8%, and forearm fat fraction was 20% vs 9%. Muscle strength in patients was reduced to approximately half of that in controls in all muscles. Muscle fat content correlated with muscle strength, SBMA functional rating scale score, and 6-minute walk test distance.

CONCLUSIONS: Our results show that there is a diffuse muscle involvement pattern in SBMA. Leg muscles are more vulnerable than arm muscles, especially the posterior flexor muscles. The muscle fat content correlates with muscle function and disease severity.

OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind92
Udgave nummer6
Sider (fra-til)e548-e559
ISSN0028-3878
DOI
StatusUdgivet - 5 feb. 2019

ID: 56461576