Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since 1994. Among 43 mothers participated in this study, 28 dystrophinopathy carriers were identified. Skeletal and cardiac muscle functions of these subjects were examined. High serum creatine kinase was found in 23 subjects (82.1%). Obvious muscle weakness was present in 5 (17.8%) and had progressed from 1994 to 2015. Cardiomyopathy was observed in 15 subjects (60.0%), including dilated cardiomyopathy-like damage that was more common in the left ventricular (LV) posterior wall. Late gadolinium enhancement on cardiac MRI was found in 5 of 6 subjects, suggesting fibrotic cardiac muscle. In speckle tracking echocardiography performed seven years later, global longitudinal strain was decreased in these subjects, indicating LV myocardial contractile abnormality. These results suggest that female dystrophinopathy carriers should receive regular checkups for detection and treatment of cardiomyopathy, even if they have no cardiac symptoms.

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Given the recent technological advent of muscle ultrasound (US), classification of various myopathic conditions could be possible, especially by mathematical analysis of muscular fine structure called texture analysis. We prospectively enrolled patients with three neuromuscular conditions and their lower leg US images were quantitatively analyzed by texture analysis and machine learning methodology in the following subjects : Inclusion body myositis (IBM) [N=11] ; myotonic dystrophy type 1 (DM1) [N=19] ; polymyositis/dermatomyositis (PM-DM) [N=21]. Although three-group analysis achieved up to 58.8% accuracy, two-group analysis of IBM plus PM-DM versus DM1 showed 78.4% accuracy. Despite the small number of subjects, texture analysis of muscle US followed by machine learning might be expected to be useful in identifying myopathic conditions. J. Med. Invest. 237Abbreviations DM = dermatomyositis, DM1 = myotonic dystrophy type 1, EI = echointensity, GLCM = gray level co-occurrence matrix, GLNU = graylevel non-uniformity, GLRLM = gray-level run length matrix, GLZLM = gray-level zone length matrix, IBM = inclusion body myositis, NGLDM = neighborhood gray-level different matrix, PM = polymyositis, ROI = region of interest, US = ultrasound

Preferential high echogenicity in the medial gastrocnemius and deep finger flexors is suggestive of DM1. Muscle echogenicity is not generally related to functional dysfunction in DM1.

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A 31-year-old womandisplayed sleepiness and impairment of recent memory. T2-weighted MRIrevealed high signal intensity lesions in the bilateral basal ganglia, thalamus, and brainstem. Although remission was achieved with corticosteroid therapy, she again displayed memorydysfunction and emotional disturbance one year later, at which time MRIdisclosed new lesions in the right caudate nucleus and left frontal white matter. Corticosteroid therapy lead to improvement,and she suffered no recurrence on maintenance steroid therapy. These findings suggest that caudate lesions do occur in multiple sclerosis, the manifestations of which can be abulia and memorydysfunction, as in the present case. (Internal Medicine 40: 358-362, 2001)

A 47-year-old man with Hirayama's disease who developed cervical spondylotic amyotrophy (CSA) is presented. The patient had noted weakness and atrophy of hand and forearm muscles bilaterally at the age of 16. At the age of40, he developed proximal muscle atrophy and weakness bilaterally after 20 years ofa non-progressive state. Myelography and computed tomography (CT> myelography revealed that ventral cord compression at multiple levels ofC4-7 vertebral bodies was increased when the neck was extended. The clinical diagnosis was CSAassociated with Hirayama's disease. To our knowledge, this is the first such case to be reported.

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