We report on 3 brothers with a myopathy that also affected their maternal grandfather and great-uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X-linked myopathy with excessive autophagy.

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Comparison of the radiographic signs of Scheuermann disease and the corresponding disc degeneration on thoracolumbar magnetic resonance (MR) images was made in 21 young patients. Marginal sclerosis, Schmorl nodes and narrowed disc spaces, but not irregular or wedge-shaped end-plates, were significantly associated with disc degeneration. Fifty-five percent of the discs in the patients with Scheuermann disease were abnormal on MRI, compared with 10% in asymptomatic controls. Our study confirms that thoracolumbar disc degeneration is enhanced in 20-year-old patients with low back pain who have radiological evidence of Scheuermann disease.

Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.