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Abstract：
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.
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.
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.
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.
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.
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.
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.
摘要：
使用磁共振成像（MRI）和固定测力计，目的是调查椎旁肌肉和下肢的肌肉影响，并比较anocamin5（ANO5）缺乏的男性和女性的肌肉影响。
纳入了17名具有致病性ANO5突变的患者（7名女性）。通过DixonMRI评估背部和腿部肌肉的定量肌肉脂肪分数。通过固定测力计评估肌肉力量。结果与11个匹配的比较，健康的控制。
患有ANO5缺乏症的男性的肌肉受累模式的特征是腿筋的严重脂肪替代，内收肌和腓肠肌,而椎旁肌肉只受到轻微影响，而保留的gra肌和sartorius肌肉则肥大。患有ANO5-肌病的女性，与男性患者年龄相同，受到了轻微的影响，表现出类似于健康人的肌肉感情和力量，除了臀小肌和中肌和腓肠肌被脂肪显著取代。尽管个别肌肉在一些肌肉群中表现出明显的不对称受累，整体肌肉受累是对称的.
ANO5缺乏的患者在影像学上具有相对保留的椎旁肌肉，并且仅在男性中躯干伸展力轻度降低。我们的研究量化了患有ANO5缺乏症的女性和男性在下肢肌肉影响方面的巨大差异。临床上的观点是，在ANO5缺乏症中，情感可能非常不对称，但是目前的研究表明，虽然这可能对一些肌肉是正确的，一般的印象是肌肉感情是非常对称的。
纳入了17名具有致病性ANO5突变的患者（7名女性）。通过DixonMRI评估背部和腿部肌肉的定量肌肉脂肪分数。通过固定测力计评估肌肉力量。结果与11个匹配的比较，健康的控制。
患有ANO5缺乏症的男性的肌肉受累模式的特征是腿筋的严重脂肪替代，内收肌和腓肠肌,而椎旁肌肉只受到轻微影响，而保留的gra肌和sartorius肌肉则肥大。患有ANO5-肌病的女性，与男性患者年龄相同，受到了轻微的影响，表现出类似于健康人的肌肉感情和力量，除了臀小肌和中肌和腓肠肌被脂肪显著取代。尽管个别肌肉在一些肌肉群中表现出明显的不对称受累，整体肌肉受累是对称的.
ANO5缺乏的患者在影像学上具有相对保留的椎旁肌肉，并且仅在男性中躯干伸展力轻度降低。我们的研究量化了患有ANO5缺乏症的女性和男性在下肢肌肉影响方面的巨大差异。临床上的观点是，在ANO5缺乏症中，情感可能非常不对称，但是目前的研究表明，虽然这可能对一些肌肉是正确的，一般的印象是肌肉感情是非常对称的。
