Arthromyodysplasia congenita; simulating the arthritic manifestation of "rheumatoid disease".

"Rheumatoid disease" in its acute or chronic form with systemic or local manifestations may simulate many diseases in general medicine. Local manifestations may resemble many specific arthritides and bony and muscular lesions with secondary joint involvement (Ellman, 1947; Ellman and Ball, 1948), and two cases of a chondro-osseous dystrophy, which had been regarded as an arthritic manifestation of "rheumatoid disease", have already been reported (Ellman, 1949). The purpose of this paper is to give an account of a unique case of so-called "amyoplasia congenita" or "arthrogryposis multiplex congenita", which we, for reasons to which we shall refer in the discussion, prefer to designate "arthromyodysplasia congenita". This condition occurred in a roadsweeper aged 40, who was initially referred as a case of "rheumatoid arthritis". The flexion deformities of fingers, wrists, elbows, and knees, and the fixation of these joints, give the impression of a fibrous ankylosis, hence the terms "multiple articular rigidity" and "arthrogryposis multiplex". As we shall show, the symmetrical joint immobility and flexion deformity are never associated with any inflammatory change, but depend upon some congenital developmental defect, probably associated with a dysplasia of certain groups of muscles with changes occurring in and around the joints. Case Report Male, aged 40, single, roadsweeper, was admitted to the Rheumatism Unit at St. Stephen's Hospital as a possible case of "rheumatoid arthritis". At the time of admission he was complaining of pain and stiffness in the knees, ankles, and toes, together with occasional aching of the shoulders and upper limbs in general for the past 2 months. In addition to his polyarthralgia he had been complaining of some breathlessness on exertion. His past history showed that ever since he could remember he had had several severe joint deformities, in fact since the age of 21 years when he had attended the paediatric department of a London hospital for an apparently congenital condition of his limbs. He had been under their supervision until he had reached the age of 16, but in spite of these very marked deformities he had worked as a roadsweeper until 7 weeks before admission to hospital. There was no relevant family history. Clinical Examination.-Pupils equal and reacted to light and accommodation; disks healthy; no evidence of disease clinically in heart, lungs, abdomen, or central nervous system. Blood pressure 130/80. No clinical evidence of anaemia. No lymphadenopathy, hepatomegaly, or splenomegaly. X-Ray Examination of the heart was within normal limits. Electrographic Examination normal. Locomotor System.-Severe limitation of movement in! elbow joints which were almost fixed at a right angle. Flexion deformities of hands and wrists (Fig. 1). No abnormality of the spine. Hip joints considerably restricted in range of movement. Knees similarly restricted, the right one being painful. Ankles also limited to a few degrees of movement in the middle range (Fig. 2, overleaf). Joint lesions all of a secondary degenerative nature.