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Arthrogryposis Multiplex Congenita Part 1: Clinical and Electromyographic Aspects

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Arthrogryposis Multiplex Congenita Part 1: Clinical and Electromyographic Aspects J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.4.425 on 1 August 1972. Downloaded from Journal ofNeurology, Neurosurgery, anid Psychiatry, 1972, 35, 425-434 Arthrogryposis multiplex congenita Part 1: Clinical and electromyographic aspects E. P. BHARUCHA, S. S. PANDYA, AND DARAB K. DASTUR From the Children's Orthopaedic Hospital, and the Neuropathology Unit, J.J. Group of Hospitals, Bombay-8, India SUMMARY Sixteen cases with arthrogryposis multiplex congenita were examined clinically and electromyographically; three of them were re-examined later. Joint deformities were present in all extremities in 13 of the cases; in eight there was some degree of mental retardation. In two cases, there was clinical and electromyographic evidence of a myopathic disorder. In the majority, the appearances of the shoulder-neck region suggested a developmental defect. At the same time, selective weakness of muscles innervated by C5-C6 segments suggested a neuropathic disturbance. EMG revealed, in eight of 13 cases, clear evidence of denervation of muscles, but without any regenerative activity. The non-progressive nature of this disorder and capacity for improvement in muscle bulk and power suggest that denervation alone cannot explain the process. Re-examination of three patients after two to three years revealed persistence of the major deformities and muscle Protected by copyright. weakness noted earlier, with no appreciable deterioration. Otto (1841) appears to have been the first to ventricles, have been described (Adams, Denny- recognize this condition. Decades later, Magnus Brown, and Pearson, 1953; Fowler, 1959), in (1903) described it as multiple congenital con- addition to the spinal cord changes. tractures with muscle defects. In 1913, Rocher In the past decade, with the use of electro- gave the designation 'multiple congenital articu- myography, the nervous system and especially lar rigidity' and suggested that intrauterine the spinal cord remained the focus of attention, pressure, such as that due to hydramnios, might as a large proportion of cases revealed denerva- restrict foetal movement and produce joint tion potentials (Lefebvre and Chaumont, 1957; changes secondarily. In 1923, Stern proposed Swinyard, 1960; Smith, Bender, and Stover, the term 'arthrogryposis multiplex congenita' 1963; Amick, Johnson, and Smith, 1967). (AMC), from two Greek words, meaning a Thus, by the mid-1960s, two major types of 'crooking' of joints. Up to this time, joint AMC were being recognized-the neurogenic http://jnnp.bmj.com/ deformities were generally considered the pri- and the myopathic. At times a primary process mary defect. There are also some reports in the of maldevelopment of neuromuscular elements literature suggesting a primary muscle disorder. was also envisaged. These are reviewed by Dastur, Razzak, and The study reported here was undertaken in an Bharucha (1972). attempt to resolve some of these differences of It was not till 1933 that attention shifted to opinion regarding the pathogenesis of this con- the central nervous system as the primary site of dition, through a combined clinical, electro- on September 24, 2021 by guest. pathology in AMC. In this year, Price (1933) myographic, and histopathological evaluation. and Scarzella (1933) independently described The presence of limiting deformities at two or diminution in size, degeneration, and a fallout more joints (excepting talipes) from birth of anterior horn cells in the spinal cord in cases onwards, was considered essential for the of this disorder that went to necropsy. Since diagnosis. then, many papers have stressed the spinal cord changes in AMC (Gilmour, 1946; Brandt, 1947; METHODS Kanof, Aronson, and Volk, 1956; Fowler, 1959; During the three years 1966 to 1968, we examined and Swinyard, 1960). Anomalies of the cerebral and studied 15 cases (and added one of the older cortex, such as abnormal gyri and dilated cases) of AMC, as observed at the Children's 425 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.4.425 on 1 August 1972. Downloaded from 426 E. P. Bhlarucha, S. S. Pandya, and Darab K. Dastur Orthopaedic Hospital in Bombay. A detailed ante- mothers complained of abdominal pain 15 days and natal, natal, and postnatal history, with a family two months before delivery respectively. history and a careful evaluation of the develop- mental milestones, was obtained from the parents of Delivery (Cases 2, 8, 12, 13, 14.) It was surprising each child. This was followed by a detailed neuro- to note how frequently these children with fixed limb logical examination and, generally, a psychological deformities were born at home without obstetrical evaluation. Radiographs of the bones and joints of assistance. Two were vertex presentations, with legs limb and trunk were available in 13 cases. flexed at the hips and extended at the knees. One Electromyography was carried out on 13 of the breech presenting baby also had legs extended at the cases, using either a RAF type IlIc single channel or knees. However, case 13 required a caesarean section a Disa two-channel electromyograph coupled with a after prolonged labour. During delivery of case 12 Tektronix type 564 storage oscilloscope, and con- the head came out 20 minutes before the rest of the centric needle electrodes. A general sampling of one body, with the legs entwined around the neck and or two muscles each of the upper and the lower limb, the arms tethered to the side by loops of umbilical usually including the deltoid and the quadriceps, was cord. carried out in all cases. Nerve conduction velocity There was no clear history of hydramnios or could be measured in only one case. In each muscle oligohydramnios in any of these cases. Some as many sites were needled as were necessary to study mothers however did complain of feebleness of 10 motor units. With the RAF type IlIc single foetal movements during this pregnancy compared channel instrument only rough visual measurements with their other pregnancies. Cases 6 and 16 had a were possible, but use of the coupled DISA and delay in crying after birth, while case 1 sucked Tektronix instrument enabled accurate determina- poorly and had a feeble cry for the first month. tion of amplitude and duration. Three of these children could be recalled two to Developmental milestones A delay in motor de- three years later and were examined carefully and velopment was present in 15 of 16 cases. The soleProtected by copyright. repeat biopsy specimens obtained (Dastur et al., exception was case 7, who was seen only once at the 1972). age of 5 months, when it was difficult to establish motor retardation. In eight cases, there was also OBSERVATIONS mental retardation, suggesting an associated cerebral INITIAL EXAMINATION defect. Isolated motor delay with normal mental HISTORY: POSSIBLE PREDISPOSING FACTORS Genetic status was present in the remainder, and here the (Cases 1, 8, 9, 15.) The parents of case 1 were related gross mechanical handicap resulting from arm and to each other; there was a sib with arthrogryposis leg deformities was probably the major contributory multiplex in the family of case 8. The father and factor. This is particularly true of cases 4 and 14, sister of case 15 had a congenital heart lesion, while where normal mental development accompanied an uncle of the same patient had bilateral talipes normal early motor milestones with delay in standing equinovarus (TEV). On the other hand, case 9 had and walking. an unaffected twin sister. CLINICAL FEATURES All 16 cases of arthrogryposis Pregnancy (Cases 1, 14.) In the majority of cases, multiplex congenita in the present series showed http://jnnp.bmj.com/ this was quite normal. However, a rash all over the deformities of two or more joints from birth. Their body in case l's mother at the seventh month of ages at the first examination varied from 2 days to pregnancy may have been due to measles. Another 15 years and there were nine males and seven mother (case 14) had vaginal bleeding from the females. The salient clinical findings are summarized third to the seventh months of pregnancy. Two in Table 1. BLE 1 SUMMARY OF MAIN CLINICAL AND ELECTROMYOGRAPHIC FINDINGS IN 16 CASES on September 24, 2021 by guest. Case Sex Age Main deformities Other clinical Electromyography FMG Other no. (yr) and/or contractures features diagnosis informaticn Fibrilla- Motor unit potential Inter- tions ference Doira- Ampli- Poly- pattern tion tude phasics (msec) (,u V) (%) 1 F 2 2/12 Arms: 'policeman-tip' Mild myopathic No 1-2 300 50 Full Myo- A.L. Legs: mild flexion facies; proximal pathic weakness 2 F 8/12 Arms: normal Weak arms, proximal No 6 1000 None Full Normal A.K.C. Legs: marked extension distal. Hip-movements with TE fair despite dislocations J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.35.4.425 on 1 August 1972. Downloaded from Arthrogryposis multiplex congeniita 427 TABLE 1 -(continued) Case Sex Age Main deformities Other clinical Electromyography EMG Other no. (Iyr) and/or contractures features diagnosis information Fibrilla- Motor unit potential Inter- tions ference Dura- Ampli- Poly- pattern tion tude phasics (msec) (MV) (%) 3 M 3 6/12 Arms: minimal flexion 'Bird-like facies', No 5 800 None Full Normal Prominent M.N. deformity at first 3 fingers almost soft tissue elbows equal shadows in Legs: in flexion MR+ x-rays 4 M 2 Arms: 'policeman-tip' High 6 1000 100 Single Neuro- M.R.G. Legs: almost normal Right foot prehensile fre- oscilla- pathic Takes a few steps quency tions when led. MR+ dis- charges 5 M 11 Arms: 'policeman-tip' Spina bifida occulta H.B. Legs: some flexion at several operations hips, knees; done on all these 3 ankles fixed in joints; walking with mid-position crutches 6 F 1 3/12 Arms: 'policeman-tip' No 6 1000 10 Single Neuro- L.P.S.
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