Volume 14

Treasury of human inheritance / edited by Karl Pearson, R.A. Fisher, L.S. Penrose.

Date:
1909-
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Treasury of human inheritance / edited by Karl Pearson, R.A. Fisher, L.S. Penrose. Source: Wellcome Collection.

    62/93 (page 338)
    rising from a chair; he waddled in walking and fell easily; his face was normal; muscular atrophy was noted in his trunk and proximal limbs; enlargement of muscles had occurred in his calves, infraspinati, serratus magnus, deltoids and in his forearms; his tendon-jerks were abolished. II. 1 was reported to be bedridden and to have muscular dystrophy. Fig. 805. Wi-Family. II. 2 was healthy until 16 when he first complained of weakness of his right ankle; symptoms extended to his thighs, trunk and upper limbs so that at 21 he had difficulty in rising from a chair and in straightening his back on bending; at 22 his face was very weak, lordosis was severe and muscular atrophy was widespread in his trunk and limbs; at 28 he had lately become unable to step up a kerb and had a typical myopathic facies; wasting was most severe in his right leg and in his left arm and back; his biceps- and supinator-jerks were exaggerated on the right, absent on the left; triceps-jerks were absent on both sides; his knee-jerks were present. II. 3 was unable to raise her right arm above her head at 11; she thought that her condition had advanced rapidly during the first year and had varied little since; at 15 all her facial movements were weak; muscular atrophy was noted in her upper arms and in her right gluteal area; her right scapula was winged and her right side generally was more affected than the left; all her tendon-jerks were present; she had a reaction of degeneration in her right serratus magnus and triceps. These cases are atypical but appear to be definite examples of facio-scapulo-humeral dystrophy. I. 1 died in childbirth. Fig. 806. Da-Family. II. 5 began to fall about at 6 and his gait became peculiar; his legs slowly got weaker and at 10 he could only walk a short distance; he had special difficulty in mounting stairs and he waddled; the muscles of his upper arms and of his thighs were wasted and weak; pes equinus was noted; his calves and anterior tibial muscles showed no wasting but were not said to exhibit pseudohypertrophy; he appears to be a ease of atrophic myopathy. II. 3 was said to be similarly affected; he attended at the National Hospital at the age of 6; at 14 he was unable to walk and had con tractures. No other case of the disease was known to have occurred in the family. Fig. 807. Do-Family. II. 1 had always had weak limbs and walked with difficulty; at 5 he waddled, his scapulae were winged, he had lordosis and his buttocks were large; at 7 his condition was diagnosed as pseudohypertrophic muscular dystrophy; he was unable to stand or walk from the age of 9; at 11 he could feed himself with difficulty; he was a bit childish for his years and had genital infantilism; muscular atrophy was widespread over his trunk and the proximal parts of his limbs; his glutei showed pseudohypertrophy; his fore arms and hands appeared to be normal. II. 4 was said to be “a bit funny on his legs; the local doctor thinks it is just a touch of the same thing”. . Fig. 808. Ba-Family. II. 4, seen at 19, said that 9 months previously he had become aware of weakness in his right arm; he had been unable to work for 9 weeks; muscular atrophy was noted in his right triceps and biceps and in the muscles of his right hand; his lower extremities were unaffected and his pectoral muscles, deltoids, sternomastoids and facial move ments were normal; the tendon-jerks in his right upper arm were absent or weak, those on the left side, and his knee- and ankle-jerks were exaggerated. Seen at a later date his scapular muscles on the right side showed signs of affection and he had a right side facial weakness most marked in the orbicularis oculi, buccinator and orbicularis oris. II. 5, 6 and 7 were said to be similarly affected. Fig. 809. Hi-Family. II. 2 began to fall about and to walk on his toes at the age of 10; 3 months later affection of his arms was noticed; he was seen 3 months after this when no wasting was demonstrable in his legs and power was good, but he waddled, had lordosis, and got up from the floor in a Characteristic way; he had talipes equinus; at this time the musculature of his arms was very poor, with contractures at the elbows; pseudohypertrophy was noted in his deltoids and infraspinati. At 13 little change had occurred but his pectoral muscles had become weak and wasted and there was a sug gestion of wasting in the small muscles of his hands; the tendon reflexes were abolished in his upper extremities and weakened or absent in the lower. I. 5 was said to have muscular wasting in his arms, with deformity at the elbows. Fig. 810. Hor-Family. III. 5 was unable to sit up until the age of 18 months; 3 months later he started to walk but “seemed too heavy for his legs”; at 8 he fell and broke his right leg; at 9 a similar accident occurred and he had been unable to walk since; at 10 he had a grossly emaciated and distorted body and was so weak as to be almost helpless; he was unable to sit up in bed or raise his head from the pillow; muscular wasting was severe and generalised; his legs were flexed at the knees from contractures; all his tendon-jerks were abolished except his ankle-jerks which were brisk. III. 6 was a bright normal child until the age of 10 when the school doctor noticed some wasting of the left shoulder; her mother soon noticed that her chest and back also were getting thinner; she had always had big legs but they had not enlarged recently; on examination her upper limbs were said to be thin, with no localised wasting, except perhaps the left pectoralis major and the left scapular muscles; her trunk and lower extremities showed no abnormality; some weakening of the tendon-jerks in her upper extremities was found; she was regarded as a possible example of abortive disease. I. 1 became mentally ill at the climacteric and died. II. 6 was born a cripple with his left leg wasted and deformed. II. 8 was said to have been small and thin and very weak; he had been unable to walk after the age of 8 years. II. 9 had “paralysis in his legs” during 2 years. III. 11 died aged 5 “from paralysis in his legs which had only lasted 3 weeks”. II. 12 died from malaria during the war of 1914-18. Fig. 811. Re-Family. III. 1, seen in the out-patient de partment at the age of 12, was unable to stand or walk and was said to have never walked normally; his upper arm muscles were wasted and the abductors of his shoulders were weak; his pectorals were almost absent, his latissimi were wasted and weak; severe wasting was noted in his spinati; weakness and wasting was also described in his lower ex tremities; his face and neck muscles were fairly good; the child was fat. At 15 the boy was very fat and heavy; he had contractures and was unable to move himself or raise his arms or lie down in bed; scoliosis was severe; he was bright mentally and his face muscles showed no sign of affection; his mother said that his calves had been very large at an early stage of the disease, as in the other affected members of the family. III. 3 suffered from the same condition and became quite helpless; he was always thin and became emaciated, presenting a contrast in appearance to his cousin. I. 3 and II. 2 were similarly affected and the recollections of II. 6 concerning them left no doubt of the nature of their disease. II. 1 died from convulsions. Fig. 812. Sc-Family. I. 4 never walked normally; at 6 he was unable to walk but could still sit up; at 14 he was sent to an infirmary where he died aged 21; the calves of his legs were said to have been very large; his head was large, the rest of his body very small. II. 4 walked at 2£ years but never walked normally; he was unable to walk at 8 and soon became helpless; at 11 he could scarcely raise his head from