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)

We report cystinuria and symptoms of cerebellar atrophy in a 45-year-old man. His parents were first cousins, and many members of his family had stones of urinary tract or gait impairment. Neurological examination disclosed cerebellar signs resembling those of spinocerebellar degeneration. Urinalysis disclosed high cystine, lysine, ornitine and arginine output. Cystine was 1153.8 micro mol/day (normal range, 22-170); lysine, 3443.9 (normal range, 44-1000); ornitine, 283.8 (normal range, 7-40); and arginine, 154.0 (normal range, 9-50). Neurological complications reported to be associated with cystinuria include mental retardation, muscular dystrophy, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy. Cerebellar signs have been reported in only two cases, and to our knowledge, this is the first case of cystinuria with cerebellar atrophy ever reported. Some common metabolic errors may have caused both disorders, although they also may have developed independently.
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PMID:[Cystinuria with symptoms of cerebellar atrophy--a case report]. 189 74

Williams-Beuren syndrome (WBS) is a disorder of unknown aetiology. The classical features of the syndrome include a typical ('elfin') facies, mental retardation and heart defects. Myopathy has not so far been part of the spectrum of WBS. We studied six patients with WBS aged 3-25 years, five of whom showed clinical and morphological evidence of myopathy. The clinical manifestations of myopathy included hypotonia in infancy, walking delay, joint contractures, scoliosis, and increased exhaustion on exertion. These symptoms were present in variable expression but part of a typical postural pattern. Examination of muscle biopsies showed lipid storage in four patients and increased variability of fibre size in three. In one patient a muscle biopsy gave normal results. Biochemical investigation in four patients with morphological evidence of lipid storage in muscle revealed muscle carnitine deficiency in three. In addition, enzyme activities of fatty acid beta-oxidation were low in one of two specimens tested. It is concluded that a clinically relevant myopathy is part of the multi-system manifestation of WBS and a clinical trial of carnitine supplementation is justified.
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PMID:Myopathy in Williams-Beuren syndrome. 191 7

A boy who had experienced generalized muscle weakness and hypotonia since early infancy was diagnosed as having nemaline myopathy on the basis of muscle biopsy at 3 years of age. At 8 years of age, he developed severe respiratory failure and required respiratory support during sleep. Because of recurrent pneumothorax, he underwent thoracic surgery, at which time biopsy specimens were obtained from the respiratory and truncal muscles. The histologic findings of the respiratory muscles included marked variation in fiber size with a notable increase in fibrous tissue, type 2 fiber deficiency, elevated acid phosphatase activity, and a disorganized intermyofibrillar network. The findings from the truncal muscles were similar to those of the biceps brachii muscle: little variation in fiber size, numerous nemaline bodies in all fibers, and type 1 fiber predominance. The preferential damage to the respiratory muscles was probably responsible for the sudden onset of severe respiratory failure.
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PMID:Respiratory muscle involvement in nemaline myopathy. 196 32

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

Our previous paper presenting electromyographic findings in patients with congenital fiber type disproportion myopathy, confirmed the myogenic character of the disease process. That group of patients was however fairly heterogenous regarding both the clinical features and the morphological changes in muscle fibers (e.g. cases with central cores). In the present study we have examined 13 children with hypotonia and muscle fiber type disproportion operated on in childhood for congenital hip dislocation. In all cases CNEMG and SFEMG with FD estimation was performed in biceps brachii and quadriceps femoris muscles. In all muscles examined either slight EMG changes indicative of myopathy or a normal EMG pattern was found. None of the patients demonstrated an evident increase in FD values. Normal FD and the recruitment pattern proportional to the force of contractures indicate that the normal number of motoneurons is preserved. Accordingly, our present findings confirm the conclusions of our previous paper.
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PMID:Fiber density in congenital muscle fiber type disproportion. II. Congenital muscle hypotonia and hip dislocation. 200 26

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

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.
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PMID:Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy). 224 Apr 64

A 15-month-old boy, thought to have a congenital myopathy, was subsequently diagnosed as having mucolipidosis type IV, with typical membranous inclusions in muscle fibers. Involvement of skeletal muscle in this lysosomal storage disease may explain the motor delay and hypotonia that are its most common presenting signs.
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PMID:Muscle involvement in mucolipidosis IV. 228 86

A 3-year-old boy with congenital nemaline myopathy had generalized muscle weakness and hypotonia since birth. He developed cardiac symptoms at 2 years of age and died from congestive heart failure. At autopsy, the heart was markedly dilated, involving both ventricles. Rod bodies were recognized not only in skeletal muscles but in cardiac muscles on light and electron microscopy. Desmin and alpha-actinin, which constitute Z-line protein, were shown to localize in the rod structures in both skeletal and myocardial cells by immunohistochemistry. Seven cases of nemaline myopathy with cardiomyopathy have been reported in the literature. All of these patients were over 20 years of age, and the condition appeared mostly in the adult onset and the asymptomatic forms. This is the first infantile case of congenital nemaline myopathy which showed dilated cardiomyopathy with a fatal outcome.
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PMID:Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. 229 10

We report severe congenital encephalopathy and profound hypotonia associated with necrotizing myopathy, cardiomyopathy, and cataracts in 3 infants, including 2 sisters. Brain scans suggested agenesis of the corpus callosum. Neuropathological findings consisted of severe atrophy of the corpus callosum (not the usual agenesis with longitudinal callosal bundles), atrophy of the white matter, and absence of pyramidal tracts in the medulla. Multiple axonal swellings were present in the white matter and in Purkinje cells. Except for the corpus subthalamicum, gray matter structures were preserved. These findings are considered to be the expression of a primary disorder of axonal development leading to a reduction in interneuronal synaptic contacts. It is suggested that the anomaly may be due to an extension of the normal phenomenon of axonal elimination, related to a primary defect of the axonal cytoskeleton. The concept of a primary axonal disorder may also apply to other, mostly familial, conditions with progressive atrophy of the cerebral white matter and corpus callosum.
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PMID:A disorder of axonal development, necrotizing myopathy, cardiomyopathy, and cataracts: a new familial disease. 231 15


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