THE spinal muscular atrophies are a group of heredodegenerative disorders of the anterior horn cell which vary in pattern of heredity, distribution of weakness, and course of illness. At times, the clinical presentation suggests muscular dystrophy and the diagnosis relies heavily on the results of muscle biopsy, electromyography, and serum enzyme studies. This report presents a mother and daughter with a neurogenic muscular atrophy affecting primarily the face, neck, and shoulders. The resemblance of these patients to others with facioscapulohumeral dystrophy was so striking that the distinction depended entirely on laboratory studies.
Report of Cases
Case 1.—This patient is a 17-year-old white girl of Italian extraction. She was the product of a normal pregnancy, labor, and delivery. Developmental milestones were met at an appropriate rate. Four years prior to admission, the patient noted the onset of progressive weakness of the facial muscles (Fig 1) followed by difficulty in abduction
Gerald M. Fenichel, Edward S. Emery, Patricia Hunt. Neurogenic Atrophy Simulating Facioscapulohumeral DystrophyA Dominant Form. Arch Neurol. 1967;17(3):257–260. doi:10.1001/archneur.1967.00470270035005