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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nemaline rod myopathy is an inherited congenital myopathy first described in 1963. Affected patients characteristically present in infancy with a non-progressive hypotonia and symmetrical muscle weakness. The disease affects all skeletal muscles including the diaphragm with sparing of cardiac and other muscle. Facial dysmorphism is common as are skeletal deformities, including kyphosis, scoliosis and pectus excavatum. We present two sisters with nemaline rod myopathy and their anaesthetic management for scoliosis surgery. Facial dysmorphism was a feature of both cases. Preoperatively, both patients demonstrated poor respiratory function on pulmonary function testing. Both cases were successfully managed using controlled ventilation and inhalational anaesthetic agents, avoiding muscle relaxants. Postoperatively, there were no respiratory complications. Although one case report describes the use of succinylcholine and pancuronium in a patient with nemaline rod myopathy, we feel that neuromuscular blocking agents should be avoided where possible and only used with careful monitoring.
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PMID:Anaesthetic implications of nemaline rod myopathy. 404 56

Eleven patients diagnosed as having muscular dystrophy and who underwent posterior spinal fusion were reviewed: Becker dystrophy in one, limb girdle in two, facioscapulohumeral in one, myopathia unspecified in one, myotonia dystrophica in two, myotonia congenita in one, and hypotonia congenita in three. There were eight females and three males. The curve pattern was thoracic in four, thoracolumbar in three, double thoracic and thoracolumbar in three, and thoracolumbar lordosis in one. Scoliosis was associated with kyphosis in two, with lumbar lordosis in one, and thoracic lordosis in four patients associated with poor vital capacity and shortness of breath. Seven patients had nonoperative treatment, five showing increase of the curve, and two having control of the curve. All patients had posterior spinal fusion with instrumentation with a follow-up of 9-89 months (average, 41 months). Postoperative support was used in all but one. Major complications occurred in four patients: a symptom of vascular obstruction of the duodenum in two, extubation delayed until the 7th day postoperatively in one and pseudarthrosis in one resulting in an increasing curve and refusion. One patient (limb girdle), 6 years after surgery at 21 years died from cardiomyopathy. The second (limb girdle) lost ambulation at age 22 years, 6.6 years after spinal surgery. In conclusion, patients with muscular dystrophies other than Duchenne generally have slowly evolving curves, and the use of an orthosis in the juvenile years controlled the curve until the pubertal growth spurt, when progression occurred. Surgical treatment was successful in stabilizing the deformities.
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PMID:Spinal deformities in patients with muscular dystrophy other than Duchenne. A review of 11 patients having surgical treatment. 407 Dec 69

A girl with congenital muscular dystrophy with severe scoliosis from birth was presented. No positive family history was obtainable. She developed muscle hypotonia and weakness, and feeding difficulty during the neonatal period. Her developmental milestones were delayed; she learned to walk at the age of 2 years when she walked with a "waddling gait" and stood up with Gowers' maneuver. On physical examination at 2 years old, she had mild proximal dominant muscle weakness and atrophy, and severe scoliosis with a Cobb's angle of 74 degrees but no joint contractures in the extremities. Creatine kinase was slightly elevated. Biopsied muscle showed myopathic changes, including variation in fiber size, moderate fibrous tissue proliferation, some necrotic and regenerating fibers and type 1 fiber predominance, consistent with those seen in chronic progressive muscular dystrophy.
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PMID:Congenital muscular dystrophy with severe infantile scoliosis. 408 85

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

A 19 years old woman suffered from claw feet and mild disorders of gait since infancy. Physical examination disclosed parseris of pelvis girdle, diffuse areflexia, mild dorsolumbar scoliosis, claw feet and a high arched palate. The facial muscles and cranial nerves were not involved. Serum enzymes were normal, EMG was consistent with a myopathy. Family examination and laboratory data were normal. On muscle biopsy, there were many muscle fibers with central nuclei and clear perinuclear areas, and a varying increase of adipose tissue. Histochemical studies showed type I fiber predominance and atrophy ; the central part of fibers was not stained by ATPase reactions but was strongly reactive with phosphorylase and oxidative stains. By electromicroscopy, central nuclei were separated by strands of glycogen ; there were no myofibrillar abnormalities. From a literature review, there is a large heterogeneity in genetic, clinical and pathological findings. Any attempt to class the different kinds of this disease is difficult, other than by the age of onset : --Early onset cases are characterized by neonatal hypotonia, severe disability and sometimes early death by pulmonary involvement. --Infantile and late onset cases have slower evolution. The nature of the disease remains unknown.
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PMID:[Centronuclear myopathy. Complete review of the literature apropos of a case]. 676 Aug 77

We have studied a sibship with one confirmed and three probable cases of the Marden-Walker syndrome (MWS). Our patient had the major manifestations of blepharophimosis and squint; narrowly arched palate with micrognathia; small mouth and mouth-breathing; facial deformities and distortions; congenital muscle weakness with resulting scoliosis; mild pectus excavatum; camptodactylies and hip and finger joints subluxation. In addition, he had small, apparently low-set and slightly malformed auricles with a unilateral preauricular tag. However, he had no apparent renal or cardiovascular involvement. Results of CPK, EMG, and of histochemical, light microscopic, and ultrastructural studies of muscle biopsy do not suggest a primary myopathy but rather CNS related weakness/hypotonia with small muscle mass and hypoactive DTRs. This pathogenetic hypothesis is confirmed by the presence of severe mental retardation and minor brain changes suggesting cortical atrophy. In five previously reported cases there has been microcephaly. Phenotype analysis does not convince that the MWS is a true malformation syndrome, but rather hints at the possibility of a congenital metabolic dysplasia. Genetic analysis demonstrated autosomal-recessive inheritance in this and two other instances; primarily sporadic occurrence leaves open the possibility of genetic heterogeneity.
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PMID:Brief clinical report and review: the Marden-Walker syndrome. 708 Dec 92

Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories consistent with X-linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X-linked recessively inherited arthrogryposis are described: (1) Severe lethal X-linked arthrogryposis with severe contractures scoliosis deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2) Moderately severe X-linked arthrogryposis with severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3) Resolving X-linked arthrogryposis with mild to moderate contractures at birth which improve dramatically with time (2 families and 1 sporadic case).
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PMID:Three distinct types of X-linked arthrogryposis seen in 6 families. 720 Aug 38

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

Children with Prader-Willi syndrome frequently have musculoskeletal problems such as joint hyperlaxity, hypotonia, delayed bone age, and scoliosis. Their musculoskeletal problems are magnified by the extreme obesity most of these patients exhibit. In certain cases, such as scoliosis, the Prader-Willi patient is placed at significant risk for increased morbidity and mortality. Our paper emphasizes the accurate diagnosis of this syndrome, proper dietary management, and some guidelines regarding surgical evaluation and management of a patient with significant scoliosis.
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PMID:Scoliosis in Prader-Willi syndrome. 733 11

Congenital Fiber Type Disproportion (CFTD) has recently been described as a consistent and stereotyped clinicopathological entity, including congenital nonprogressive hypotonia and weakness, contractures, kyphoscoliosis, high arched palate, dislocated hips, short stature, and feet deformities. Our personal experience with this condition suggests a wider disparity in the physical appearance and associated abnormalities of affected individuals than the well-defined clinical syndrome previously described. We are presenting 5 cases, including 2 siblings, whose muscle biopsies satisfy the major histological and statistical criteria for the diagnosis. Although each child clearly had hypotonia and weakness consistent with a congenital myopathy, only 3 had a sufficient number of other similarities to establish the diagnosis clinically. The clinical spectrum of the other cases ranged from one infant whose only abnormality was mild hypotonia in the legs to another whose problems included severe motor impairment, marked mental retardation, growth failure, frontal bossing, abnormal hair, and scoliosis. Even in retrospect, the diagnosis of CFTD could not have been supported on clinical grounds alone. Therefore, CFTD is a congenital myopathy whose diagnosis can be made only by muscle biopsy, rather than a distinct syndrome whose diagnosis can be assumed on the basis of clinical characteristics alone.
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PMID:Clinical variability in congenital fiber type disproportion. 738 15


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