Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-year-old girl with reducing body myopathy was reported. She had no family history of neuromuscular disease. She developed normally with no delay in milestones during infancy. She had no muscle weakness or hypotonia up to 2 years of age when she received mumps vaccination. Three days after the injection, she was first noticed to have limb muscle weakness. The muscle weakness progressed rapidly with increasing difficulty in gait and raising the upper arms, particularly the left. Four months later, she had difficulty in keeping her head up and could no longer climb the stairs. On physical examination, she had proximal dominant generalized muscle weakness, with a preferential neck muscle involvement. She walked waddlingly and stood up with Gowers' maneuver. Facial and ocular muscles were intact. No dysarthria, dysphagia or respiratory difficulty was noted. EMG showed myopathic pattern. Serum creatine kinase level was moderately elevated to 739 IU/l. In the biopsied left biceps muscle, there was marked variation in fiber size, but no apparent necrotic or regenerating fibers. The most striking feature was the presence of numerous eosinophilic inclusions which reduced nitroblue tetrazolium (NBT) and were, therefore, stained dark with menadione-linked alpha-glycerophosphate dehydrogenase even without the substrate of menadione, showing the histochemical characteristics of "reducing" body. The bodies were predominantly seen in fibers with disorganized intermyofibrillar networks and with high acid phosphatase activity. On electron microscopy, the reducing bodies consisted of fine granular material with the similar electron density to the chromatin granules and were located mostly around the degenerated nuclei, suggesting the nuclear degeneration playing a role in forming the reducing bodies.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Reducing body myopathy--a case report]. 132 Oct 16

Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth. Clinical examination revealed profound muscular hypotonia, hepatomegaly, increased serum creatine kinase activities, and lactic acidosis. Both infants were treated with gavage feeding, the boy also needing ventilatory support. Clinically they improved gradually. Now, the boy aged 4 years and the girl aged 28 months are free of clinical signs. Muscle biopsy specimens taken at 3 months showed, in both, ragged red fibres, abnormal mitochondria, and reduced cytochrome c oxidase (COX) staining. Biochemical analysis showed COX activity to be reduced to about 25% of the normal mean. The second biopsy specimen from the boy at 16 months was normal on morphological examination, but the girl's second specimen at 13 months still showed abnormal features. These cases are examples of the rare benign reversible COX deficiency. Early diagnosis is crucial to provide intensive treatment until spontaneous clinical improvement appears.
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PMID:Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. 132 59

A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in addition to pachygyria on CT. At the age of 3 years, retinal detachment developed in both eyes. Another sibling exhibited at birth such characteristic features as pachygyria, cephalocele, hydrocephalus, retinal detachment in both eyes, elevated serum creatine kinase activity and arthrogryposis multiplex congenita. We consider these findings to be more consistent with Walker-Warburg syndrome (WWS) than with FCMD. Anencephaly found in the third sibling was regarded as WWS with extreme brain abnormality. The appearance of two syndromes (FCMD and WWS) in the three members of the same family suggests that these syndromes could be allelic with variable phenotypes.
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PMID:Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy. 145 90

A 10-month-old Japanese boy developed progressive muscle weakness and hypotonia at 3 months of age. Because of striking inflammatory cellular infiltration in his muscle biopsy, he was diagnosed as having infantile polymyositis and was placed on steroid and immunosuppressive medication when he was 10-month-old. His physical condition was not significantly altered, though serum creatine kinase (CK) level was normalized (1,500 iu/l----90 iu/l). These findings contrast with previous reports documenting improvement with steroid administration.
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PMID:Infantile polymyositis: a case report. 151 57

A two-year-seven-month-old girl with pes equinovarus congenita, muscle hypotonia and weakness limited to the lower extremities is presented. Upon admission to our hospital, she could stand with support but could not walk alone. Serum creatine kinase level was normal and the electromyogram was nondiagnostic. The muscle CT disclosed an almost total absence of bilateral vastus lateralis and medialis, rectus femoris and gastrocnemius muscles. The biopsied vastus lateralis muscle was almost completely replaced by fat tissue, and a small amount of muscle tissue showed uniform type 1 fiber and an aggregate of atrophic fibers in one fascicle. Because of an absence of progressive muscle weakness and neurogenic EMG findings, the authors conclude that the muscle pathology was due to the congenital anomalous condition of probable abnormal innervation to developing muscles.
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PMID:Congenital focal muscle dysplasia in the lower extremities from probable abnormal innervation: a case report. 162 26

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.
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PMID:Neonatal myotubular myopathy with respiratory distress: report of a case. 168 84

A young boy, aged 5 years 7 months, presented with generalized hypotonia and proximal muscle weakness, and had exhibited delayed motor milestones since birth, He showed talipes planovalgus, a myopathic face, nasal tone vocalization, positive Gowers' sign and decreased tendon reflexes, but there was no intellectual impairment or seizure. The serum creatine kinase level and peripheral nerve conduction velocity, as well as the electromyogram and electrocardiogram, were within normal limits. A biopsy specimen from the left biceps brachii muscle revealed minimal nonspecific changes and mild variations in fiber size with an increased number of undifferentiated type 2C fibers, but no subcellular abnormalities were found on either the histochemical or electron microscopic examinations. The patient was diagnosed as having minimal change myopathy and improved clinically in muscle strength after one year of follow-up.
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PMID:Minimal change myopathy: report of a case. 198 82

A case of severe infantile form of congenital nemaline myopathy who developed extensive fatty replacement of the skeletal muscles was described. A girl was born with severe hypotonia and flaccidity of the extremities. She was put on a ventilator because of the severe respiratory insufficiency. Muscle biopsy performed at 3 months of age revealed numerous nemaline rods in myofibers. She had an anoxic episode at 2 years of age and fell into a vegetative state after that. Serum creatine kinase and aldolase levels were normal. At 8 years of age, X-ray CT scan of the skeletal muscles revealed diffuse and severe fatty replacement of the skeletal muscles of the trunk and extremities; this was far more extensive than in the case of Duchenne muscular dystrophy of similar age. Second muscle biopsy performed in the anterior tibialis muscle at the age of 8 years revealed atrophic muscle fibers and extensive proliferation of connective and fatty tissues. Electron microscopy revealed, numerous rod-containing muscles fibers with severe disorganization and loss of myofilaments. Sural nerve biopsy performed at the same time showed decreased number of large myelinated fibers. Although a possibility could not be excluded completely that the episode of anoxia and chronic debilitation may have contributed to these pathological neuromuscular findings, it was presumed that severe degeneration and fatty replacement of the skeletal muscles progress rapidly after birth in some cases of severe infantile form of congenital nemaline myopathy.
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PMID:[A case of severe infantile form of congenital nemaline myopathy with extensive fatty replacement of the skeletal muscles]. 217 91

Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In hypotonic diseases, analysis of cerebrospinal fluid, electromyography, nerve conduction velocity creatine kinase and a skin biopsy for fibroblast cultures for metabolic investigations are usually carried out. Needle muscle biopsy is an additional valuable investigation to establish diagnosis. In all our patients we found an increased number of centrally located nuclei with perinuclear halos confirming the diagnosis of centronuclear myopathy. The diagnosis of this disorder will become of greater importance as soon as carrier detection and prenatal diagnosis by DNA-technology are routinely available.
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PMID:Severe neonatal asphyxia due to X-linked centronuclear myopathy. 227 10

Congenital fiber type disproportion (CFTD) is described clinically as muscle weakness and hypotonia with delayed motor development, usually from infancy. Muscle biopsy reveals that type 1 fibers predominate and smaller than type 2 fibers by a margin greater than 12% of the diameter of the type 2 fibers. There are no other subcellular abnormalities, and generally prognosis is good. The CFTD case is a six-month-old girl who manifested clinically as a floppy infant. A biopsied specimen from the left biceps brachii muscle revealed type 1 fiber predominance and hypoplasia with an increased number of undifferentiated type 2C fibers. Electromyogram, nerve conduction velocity and serum creatine kinase level were normal. The child learned to walk without assistance at 1 year 7 month old. Now 2-years and 10-months old, she can climb stairs without difficulty, although she cannot run fast.
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PMID:Congenital fiber type disproportion: report of one case. 228 44


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