TY - JOUR
T1 - A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands
AU - van Kleef, Esmee S.B.
AU - van de Camp, Sanne A.J.H.
AU - Groothuis, Jan T.
AU - Erasmus, Corrie E.
AU - Gaytant, Michael A.
AU - Vosse, Bettine A.H.
AU - de Weerd, Willemien
AU - Verschuuren-Bemelmans, Corien C.
AU - Medici-Van den Herik, Evita G.
AU - Wallgren-Pettersson, Carina
AU - Küsters, Benno
AU - Schouten, Meyke
AU - van Engelen, Baziel G.M.
AU - Ottenheijm, Coen A.C.
AU - Doorduin, Jonne
AU - Voermans, Nicol C.
N1 - Publisher Copyright:
© 2024
PY - 2024/10
Y1 - 2024/10
N2 - 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.
AB - 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.
KW - Cohort
KW - Mild form
KW - Nemaline myopathy
KW - Trial readiness
KW - Typical form
KW - 3124 Neurology and psychiatry
KW - 3112 Neurosciences
U2 - 10.1016/j.nmd.2024.08.001
DO - 10.1016/j.nmd.2024.08.001
M3 - Article
AN - SCOPUS:85201773267
SN - 0960-8966
VL - 43
SP - 29
EP - 38
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -