Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multicore disease in identical twin boys presented in infancy as generalized weakness and torticollis. Motor milestones such as sitting, standing, and running were delayed, although by the age of 6 years marked improvement in muscle strength had occurred. Serum enzymes were normal. Muscle biopsy revealed multifocal areas of decreased oxidative enzyme activity. Ultrastructurally, these areas were characterized by myofilament disruption and Z-band streaming.
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PMID:Multicore disease in twins. 98 53

Since the popularization of routine creatine kinase (CK) measurement, an increasing number of patients with unexplained CK elevation ("asymptomatic hyper-CK-emia") are being identified. We studied 19 patients with persistent CK elevation of unknown etiology with electromyography (EMG) and muscle biopsy. Needle EMG was abnormal in 14 patients. Muscle biopsy was positive in all individuals with abnormal EMG and in one patient with normal EMG. Diagnoses included polymyositis in five patients, morphologically nonspecific myopathy in three, mitochondrial myopathy in two, and sarcoid myopathy, central core disease, multicore disease, inclusion body myopathy, and McArdle's disease in one case, respectively. Five patients with abnormal biopsies developed weakness within 1 year of presentation. We conclude that persistent asymptomatic CK elevation represents mild or early myopathy in a majority of cases.
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PMID:Asymptomatic hyper-CK-emia: an electrophysiologic and histopathologic study. 272 51

Minicore disease (multicore disease) is a benign myopathy characterized by segmental muscle fibre degeneration with disruption of myofibrils and loss of mitochondria. The disease is generally thought to occur either sporadically or follow an autosomal recessive mode of inheritance. We describe 2 patients, a mother and her son, with essentially non-progressive weakness of both proximal and distal muscles. Biopsies from both patients showed focal defects of oxidative enzyme activity as well as focal disturbances of cross-striation typical of minicore myopathy. Normal fibre type differentiation was lacking. Three other families reported in the literature suggest dominant inheritance of minicore myopathy or closely related disease.
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PMID:Minicore myopathy with dominant inheritance. 380 34

We describe a family in which two adult sibs presented with a history of congenital nonprogressive myopathy, severe mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of pituitary hypoplasia. The parents were first cousins. An excess of other, apparently unrelated, genetic conditions were present in other family members. Results of histochemical and electron microscopy studies of muscle biopsies from both affected individuals were compatible with multicore disease. This newly described syndrome likely is an autosomal recessive trait and appears to be the first reported association of multicore disease with mental retardation.
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PMID:Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. 397 66

A 16-year-old girl with a generalized nonprogressive motor weakness and clinical signs of Marfan's syndrome is reported. A minicore disease was diagnosed after muscle biopsy. The association of Marfan's syndrome with muscular dystrophies is discussed.
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PMID:Multicore disease and Marfan's syndrome: a case report. 399 54

Multicore disease is a nonprogressive myopathy. To our knowledge, in all previous cases, the clinical course has been benign with no deaths attributed to it. We describe a patient who presented as a floppy baby and remained weaker throughout his life than any other patients previously described. Biopsy findings were characteristic of multicore disease. However, at age 21/2 years, our patient developed congestive heart failure that was easily controlled with digitalis and diuretics. Shortly after cardiac catheterization, the patient developed a high, unexplained fever and died 26 hours later despite aggressive attempts at resuscitation. Therefore, patients with multicores in skeletal muscle may have severe weakness and may also have a predisposition to complications subsequent to anesthesia.
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PMID:Severe multicore disease associated with reaction to anesthesia. 406 19

A 4-year-old boy suffering from a nonprogressive muscular weakness had a muscle biopsy which ultrastructurally showed large aggregates of nemaline bodies and mitochondria in myofibers; occasional concentric lamellated bodies were present as well. The mitochondria were mostly at the periphery of collections of nemaline bodies, less commonly in their central portions. The light microscopic features differed from those of either nemaline or mitochondrial myopathy and were somewhat reminiscent of multicore disease. Evidence suggestive of possible neurogenic origin of both rods and mitochondria is reviewed.
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PMID:Mixed nemaline-mitochondrial "myopathy". 625 22

Two brother are described with a congenital myopathy, including weakness of the external ocular muscles, whose biopsies showed multicores and focal loss of cross-striations, with failure of fibre type differentiation. In one patient changes in distribution and size of these core-like structures were observed in a second biopsy taken 5 years later. This family, together with others previously reported, may represent a genetically distinct subgroup of congenital multicore disease.
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PMID:Familial multicore disease with focal loss of cross-striations and ophthalmoplegia. 729 13

Five cases of central core disease, one case of multicore disease and one case of non-specific myopathy, all of which were associated with scoliosis, were studied in regard to clinical features, histology, histochemistry and electron microscopy. The characteristic clinical features were non-progression, delayed motor development and proximal muscle weakness. Muscle biopsy was the most important diagnostic procedure. Routine histology might not reveal core regions where oxydative enzymatic activity was decreased or was absent in the muscle fibers, but histochemistry disclosed clearly single or multiple core regions. Electron microscopy showed a structured or unstructured core in central core disease. Scoliosis was commonly associated and was very similar to idiopathic scoliosis. Some curves did not progress while others progressed and did not cease progression with maturation. Surgical correction and stabilization was carried out on two cases without complication. The importance of recognition of these myopathies was emphasized.
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PMID:Congenital non-progressive myopathy, associated with scoliosis--clinical, histological, histochemical and electron microscopic studies of seven cases. 739 31

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism.
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PMID:Multicore myopathy, microcephaly, aganglionosis, and short stature. 793 Apr 5


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