A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands

Esmee S.B. van Kleef, Sanne A.J.H. van de Camp, Jan T. Groothuis, Corrie E. Erasmus, Michael A. Gaytant, Bettine A.H. Vosse, Willemien de Weerd, Corien C. Verschuuren-Bemelmans, Evita G. Medici-Van den Herik, Carina Wallgren-Pettersson, Benno Küsters, Meyke Schouten, Baziel G.M. van Engelen, Coen A.C. Ottenheijm, Jonne Doorduin, Nicol C. Voermans

Research output: Contribution to journalArticleScientificpeer-review

Abstract

Nemaline myopathy (NM) is a congenital myopathy with generalised muscle weakness, most pronounced in neck flexor, bulbar and respiratory muscles. The aim of this cross-sectional study was to assess the Dutch NM patient cohort. We assessed medical history, physical examination, quality of life (QoL), fatigue severity, motor function (MFM), and respiratory muscle function. We included 18 of the 28 identified patients (13 females (11–67 years old); five males (31–74 years old)) with typical or mild NM and eight different genotypes. Nine patients (50 %) used a wheelchair, eight patients (44 %) used mechanical ventilation, and four patients (22 %) were on tube feeding. Spinal deformities were found in 14 patients (78 %). The median Medical Research Council (MRC) sum score was 38/60 [interquartile range 32–51] in typical and 48/60 [44–50] in mild NM. The experienced QoL was lower and fatigue severity was higher than reference values of the healthy population. The total MFM score was 55 % [49–94] in typical and 88 % [72–93] in mild NM. Most of the patients who performed spirometry had a restrictive lung function pattern (11/15). This identification and characterisation of the Dutch NM patient cohort is important for international collaboration and can guide the design of future clinical trials.

Original languageEnglish
JournalNeuromuscular Disorders
Volume43
Pages (from-to)29-38
Number of pages10
ISSN0960-8966
DOIs
Publication statusPublished - Oct 2024
MoE publication typeA1 Journal article-refereed

Bibliographical note

Publisher Copyright:
© 2024

Fields of Science

  • Cohort
  • Mild form
  • Nemaline myopathy
  • Trial readiness
  • Typical form
  • 3124 Neurology and psychiatry
  • 3112 Neurosciences

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