[A family with autosomal dominant hereditary myoedema, muscular irritability, stiffness and hypertrophy].
A familial case with autosomal dominantly transmitted myoedema, muscular irritability, stiffness and hypertrophy was reported. The patient is 54 years old and his father, two sisters and niece had suffered from the similar symptoms. He had noticed a feeling of stiffness and pain in the femoral muscles after several minutes of erect position from the age of 5-6 years. He had observed that light tapping of muscles caused a bulge which persisted for several seconds in the whole body. These symptoms were not progressive. The patients had an athletic appearance, hypertrophy of gastrocnemius muscles, pes cavus and hammer toes. Mild muscular weakness and wasting were noted in the intrinsic hand muscles and the anterior tibial muscles. Myoedema was seen in the muscles of the whole body. His thyroid functions were normal. EMG studies showed no myotonic discharges. Light microscopy of biopsy specimens from the biceps brachii muscle showed unspecific myopathic changes. Electron microscopy showed many vacuoles between myofibrils. The symptoms and signs of this case are very like to those of the cases which Torbergsen described in 1975 and only four families were reported after that. The family presented here is the first report in Japan.
Murayama
T
T
Department of Neurology, Japanese Red Cross Nagoya First Hospital.
Mano
K
K
Watanabe
H
H
Honda
H
H
Sugimura
K
K
D004487:Edema / Q000150:complications / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009127:Muscle Rigidity / Q000150:complications / Q000235:genetics*; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics*; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree