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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

The causative mechanisms of mitral valve prolapse (MVP) were evaluated in 58 patients with progressive muscular dystrophy (PMD). Two possible causes, 1) left ventricular (LV) dysfunction and 2) thoracic spine and thorax deformities were assessed. Patients were classified into three groups by echocardiographic findings. Group 1: 31 patients without MVP, group 2: 11 patients with MVP confirmed only by M-mode echocardiogram, group 3: 16 patients with MVP confirmed by both two-dimensional and M-mode echocardiograms. LV functions evaluated by systolic time intervals and fractional shortening showed no significant differences among the three groups. Scoliosis of the thoracic spine was not related to the incidence of MVP. Lordotic or straight spines were found in 32.3%, 100%, 93.8% of cases in group 1, group 2 and group 3, respectively, and the incidences of MVP in cases with kyphosis, straight spine and lordosis were 4.8%, 66.7% and 77.8%, respectively. The shape of the thorax as evaluated by the ratio of anteroposterior internal diameter to transverse diameter was more flattened in groups 2 and 3 than in group 1. From these results, we concluded that LV dysfunction was not related to the incidence of MVP and that the lordotic or straight spine and the flattened thorax were supposed to be the major factors in the occurrence of MVP in PMD.
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PMID:The causative mechanisms of mitral valve prolapse in progressive muscular dystrophy in reference to thorax and thoracic spine deformities and left ventricular dysfunction. 671 30

Forty-seven consecutive patients younger than eight years of age were treated for scoliosis with Harrington rods and segmental wiring, without any external immobilization. The series included 38 postpoliomyelitis patients, six muscular dystrophy patients, and three paraplegics. The average correction was 78%, with an average loss of 8% per case. Follow-up averaged four years eight months. Growth in the area of immobilization averaged 4.6 cm. Four patients (9%) had complications after the first surgery, ten (48%) after the second surgery, and three (75%) after the third surgery. Fractured Harrington bars represented 7.5% of the complications after the first surgery, 35% after the second surgery, and 50% after the third surgery. Growth potential was partially preserved after subperiosteal dissection and segmental wiring. Good correction was obtained with the method, but Harrington bars broke and two to three supplementary operations were needed to accomodate for growth of the spine.
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PMID:Paralytic scoliosis in growing children. 706 55

Charts of nine patients with Duchenne and one with Becker's muscular dystrophy who had undergone spinal fusion and Harrington rod insertion for scoliosis were reviewed retrospectively. The mean age was 15 years and mean angle of scoliosis was 69 degrees. Preoperative pulmonary function studies showed a restrictive defect with a mean vital capacity of 1.3 +/- 0.69 litres, 35 +/- 20 per cent of predicted value, 33 +/- 20 ml . kg-1 and a mean inspiratory capacity of 0.99 +/- 0.5 litres, 23 +/- 13 ml . kg-1. There were no anaesthetic complications during operation and obstructive cardiomyopathy, hyperpyrexia, hyperkalaemia and rhabdomyolysis were not problems. Succinylcholine was avoided. One patient developed an arrhythmia postoperatively and one patient whose postoperative problems included tracheostomy, pneumonia and sepsis could not be weaned from the ventilator and died 11 weeks after operation. As assessing risk and survival of the operation depends on objective pulmonary function, a vital capacity of at least 20 ml . kg-1 in the range of 30 per cent of predicted volume with an inspiratory capacity of at least 15 ml . kg-1 would appear to be adequate in patients with muscular dystrophy requiring Harrington rod insertion. Other factors including the rapidity of progression of the muscular disease, other respiratory and cardiovascular problems, and disease such as obesity should also be considered.
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PMID:Anaesthetic considerations in patients with muscular dystrophy undergoing spinal fusion and Harrington rod insertion. 707 3

Scoliosis associated with muscular dystrophy frequently necessitates surgical stabilization of the spine. The timing of surgery usually is based on the degree of spinal angulation. Pulmonary function, which deteriorates with age in children with muscular dystrophy, should also be an important consideration in this timing. In a retrospective study of 48 patients who underwent spinal stabilization, preoperative respiratory function tests were correlated with postoperative respiratory complications. The percentage of predicted vital capacity provided the best indicator of outcome and values of less than 30% were associated with major respiratory complications. Spinal fixation failed to arrest the decline in respiratory function in these patients, but it seemed to slow the rate of deterioration compared with preoperative changes. Evaluation of pulmonary function should play a major role in the timing of surgical intervention in muscular dystrophy.
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PMID:Evaluation of pulmonary function in muscular dystrophy patients requiring spinal surgery. 711 84

Statokinesimetric characteristics were analysed in patients with scoliosis which had developed in the course of degenerative neuromuscular disorders and in patients with adolescent idiopathic scoliosis. Patients with Duchenne and limb- girdle muscular dystrophy and spinal muscular atrophy showed markedly decreased oscillations of the body's centre of gravity, in addition to a forward shift of its mean position. Thus the postural equilibrium in neuromuscular patients with scoliosis is even more efficiently controlled than normal. On the other hand, patients with idiopathic scoliosis did not show any significant changes as compared with normal subjects. The present study therefore does not support the suggestion that the pathogenesis of scoliosis, at least in neuromuscular patients, is triggered by an impairment of descending postural control.
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PMID:Postural control in scoliosis. A statokinesimetric study in patients with scoliosis due to neuromuscular disorders and in patients with idiopathic scoliosis. 721 18

Three cases, a female and two males, with the diagnosis of Ullrich syndrome are presented. Major clinical findings included congenital hypotonia, joint contractures, high-arched palate, prominent calcaneus, scoliosis, hyperhidrosis and normal intelligence. The course was not progressive or even underwent slow improvement. Our cases followed the autosomal recessive pattern of inheritance. Muscle enzymes were all within the normal ranges. EMG showed findings that were consistent with a chronic myogenic pattern. Muscle biopsy revealed variation in the size of muscle fiber diameters and large increase of the connective tissue without evidence of dystrophic changes. We consider Ullrich syndrome as a nonspecific muscle disturbance of unexplained nature, related, but not identical, to both congenital muscular dystrophy and myogenic type of arthrogryposis multiplex congenita.
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PMID:[Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity]. 721 71

Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autosomal recessive muscular dystrophy of childhood (ARMDC), alternatively referred to by some as SCARMD, 18 autosomal dominant late onset (ADLO), and 29 pelvifemoral (PF) individuals. ARMDC subjects showed the greatest weakness, 2.5 +/- 1.0, mean Manual Muscle Test (MMT) grade for all muscles combined, and the only significant progression of loss of strength, -0.59 MMT unit decline per decade. Strength loss in ADLO and PF types was about the same, 3.7 +/- 0.7 and 4.0 +/- 0.7 grades, respectively. Quantitative strength measurements in ADLO and PF types were more sensitive than MMTs, showing losses of 30-40% strength in muscle groups with MMT grades of 4 or higher. All three types showed greater proximal and lower extremity weakness but usually no difference between flexor and extensor strength. There was a high percentage (44%) of mild very slowly progressive scoliosis in ARMDC, but spine deformity was unusual in ADLO and PF (11%) LGS. Contractures were few, slowly progressive, and usually mild in severity in all types, although more frequent in ARMDC. There also was a low frequency of severe restrictive lung disease in all types (10%) but a high percentage of electrocardiogram abnormalities (62-73%). The most common electrocardiogram abnormalities were increased R/S ratio in V1 and infranodal conduction defects. Intellectual and cognitive functions were within normal limits. Mobility and extremity function reflected the strength differences between the ARMDC and other types of LGS. Eight-five percent of ARMDC individuals relied on a wheelchair for all or part of their mobility, and all were unable to complete timed motor performance tests within the 99th percentile range for controls.
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PMID:Profiles of neuromuscular diseases. Limb-girdle syndromes. 757 19

The knowledge acquired over the last few years on Duchenne's muscular dystrophy (DMD) serves as the basis for management of all types of myopathy. After reviewing the current classification of muscle dystrophies and the principles of orthopedic management of these conditions, a historical perspective of surgical procedures used in DMD is presented. The various modes of discovery of myopathy are described. Deformities of the limbs and spine related to DMD are reviewed and their outcome is detailed. In DMD patients, the surgical procedures described allowed to delay loss of the ability to walk by 1 year 7 months to 3 years 8 months according to the severity of the condition, and provided significant improvements in quality of life. Surgical stabilization of the scoliosis ensured preservation of comfortable sitting in every case, as well as preservation of autonomous upper limb motion, with a low rate of complications. Surgical indications in DMD are well-established and serve as the basis for making surgical decisions in the other myopathies, except during early infancy. The principles and orientations of treatment of the other myopathies are defined, in the light of the variability of lesions and of the rate of muscle function loss. In these non-DMD myopathies, medical and surgical treatments are of as yet unquantifiable benefit but provide a substantial improvement in quality of life.
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PMID:[Palliative treatment of myopathies. Contribution of surgical treatments]. 768 31

Chronic fatigue of the respiratory pump may be due either to constant overexertion of otherwise healthy muscles of respiration (e.g. due to chronic obstructive lung disease, scoliosis) or to certain neuromuscular diseases (e.g. Duchenne type muscular dystrophy). Intermittent self-ventilation (ISV) is employed--in particular at night--in order to prevent imminent exhaustion of the respiratory muscles. The relief provided by ISV gives the muscles a chance to recover. The muscles of respiration can be largely rested by the use of volume-controlled ventilation (IPPV), or partially rested by-BiPAP ventilation (Stimotron). Two main approaches to ventilation are available: non-invasive via a breathing mask or, if this is not possible, invasive ventilation via a tracheostomy. In addition to the commercially available standard nasal masks, we more often make use of custom-made so-called Grafschaft nose-and-mouth masks. The early provision of support for the muscles of respiration can obviate, or at least delay, the need for emergency intubation and subsequent assisted ventilation in an icu in endangered patients.
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PMID:[Intermittent self-ventilation. Therapy of chronic respiratory pump fatigue]. 788 66


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