TY - JOUR
T1 - Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency
AU - Khawajazada, Tahmina
AU - Kass, Konni
AU - Rudolf, Karen
AU - de Stricker Borch, Josefine
AU - Sheikh, Aisha Munawar
AU - Witting, Nanna
AU - Vissing, John
N1 - © 2021 European Academy of Neurology.
PY - 2021/9
Y1 - 2021/9
N2 - 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.
AB - 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.
KW - Anoctamins
KW - Female
KW - Humans
KW - Leg
KW - Magnetic Resonance Imaging
KW - Male
KW - Muscle Strength
KW - Muscle, Skeletal/diagnostic imaging
UR - http://www.scopus.com/inward/record.url?scp=85109377272&partnerID=8YFLogxK
U2 - 10.1111/ene.14979
DO - 10.1111/ene.14979
M3 - Journal article
C2 - 34145687
SN - 1351-5101
VL - 28
SP - 3121
EP - 3132
JO - European Journal of Neurology
JF - European Journal of Neurology
IS - 9
ER -