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Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency
Author(s) -
Khawajazada Tahmina,
Kass Konni,
Rudolf Karen,
Stricker Borch Josefine,
Sheikh Aisha Munawar,
Witting Nanna,
Vissing John
Publication year - 2021
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14979
Subject(s) - medicine , magnetic resonance imaging , affection , medius , trunk , myopathy , adductor muscles , muscle weakness , physical medicine and rehabilitation , gastrocnemius muscle , weakness , anatomy , physical therapy , skeletal muscle , radiology , psychology , social psychology , ecology , biology
Objective Using magnetic resonance imaging (MRI) and stationary dynamometry, the aim was to investigate the muscle affection in paraspinal muscles and lower extremities and compare the muscle affection in men and women with anoctamin 5 (ANO5) deficiency. Methods Seventeen patients (seven women) with pathogenic ANO5‐mutations were included. Quantitative muscle fat fraction of back and leg muscles were assessed by Dixon MRI. Muscle strength was assessed by stationary dynamometer. Results were compared with 11 matched, healthy controls. Results Muscle involvement pattern in men with ANO5‐deficiency is characterized by a severe fat replacement of hamstrings, adductor and gastrocnemius muscles, while paraspinal muscles are only mildly affected, while preserved gracilis and sartorius muscles were hypertrophied. Women with ANO5‐myopathy, of the same age as male patients, were very mildly affected, showing muscle affection and strength resembling that found in healthy persons, with the exception of the gluteus minimus and medius and gastrocnemii muscles that were significantly replaced by fat. Although individual muscles showed clear asymmetric involvement in a few muscle groups, the overall muscle involvement was symmetric. Conclusions Patients with ANO5‐deficiency have relatively preserved paraspinal muscles on imaging and only mild reduction of trunk extension strength in men only. Our study quantifies the large difference in muscle affection in lower extremity between women and men with ANO5‐deficiency. The clinical notion is that affection may be very asymmetric in ANO5‐deficiency, but the present study shows that while this may be true for a few muscles, the general impression is that muscle affection is very symmetric.