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. Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Time trends in incidence, comorbidity, and mortality of ischemic stroke in Denmark, 1996-2016

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Clinical characterization of delayed alcohol-induced headache: A study of 1,108 participants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Serum neurofilament light as a biomarker in progressive multiple sclerosis

    Publikation: Bidrag til tidsskriftReviewpeer review

  5. Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Efficacy and Safety of Rozanolixizumab in Moderate to Severe Generalized Myasthenia Gravis: A Phase 2 Randomized Control Trial

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    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