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)

This is a report on two autopsy cases of congenital muscular dystrophy associated with micropolygyria. The first case was that of an 11-year-old boy and the other of a 22-year-old male adult. Both cases had similar clinical features, very early onset of disease, diffuse and extensive wasting of skeletal muscles including facial muscles, contracture of joints, hypotonia and mental retardation. In the familial histories of these two cases, the parents of the boy were consanguineous, and a sister of the adult case suffered from muscle weakness and mental retardation. Both of these two cases were clinically diagnosed as congenital cerebromuscular dystrophy (Fukuyama's type). Autopsy revealed marked dystrophy of generalized skeletal muscles and widespread micropolygyria of the brain in both cases. Spinal cords and peripheral nerves were free from any prominent changes. It was concluded that so-called congenital cerebromuscular dystrophy may be caused by myogenic as well as neurogenic abnormalities during fetal period.
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PMID:Congenital muscular dystrophy associated with micropolygyria - report of two cases. 119 29

The authors report on a 1-year old girl who presented with transient hypotonia and polydipsia related to renal-concentrating defect. Renal magnesium and calcium wasting were noted when the subject was 3.5 years old, in association with distal tubular acidosis and nephrocalcinosis. Hypocalcemia and hypomagnesiemia persisted when the patient was 9.5 years old. About 50 cases of tubular defects with renal magnesium loss have been reported in the literature and show that magnesium loss may be either isolated or associated with potassium and/or calcium wasting. This hereditary defect may be due to an alteration in magnesium reabsorption in the thick ascending limb of the loop of Henle.
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PMID:[Congenital tubulopathy with magnesium loss]. 133 69

We reported an additional case of Arima's syndrome with slowly progressive renal insufficiency and epilepsy. The patient is a 20-year-old man whose parents are consanguineous. He had a history of mild asphyxia at birth, and unexplained tachypnea developed during the neonatal period. But it disappeared later, and he have had no respiratory problem since then. Physical examination on admission at the age of 19 years revealed bilateral blephaloptosis, narrow palate, searching nystagmoid movement, absence of light reflex, muscle hypotonia and wasting of extremities. Funduscopic study showed optic hypoplasia, choroid coloboma and narrowing of vessels. Head CT scan showed agenesis of cerebellar vermis and hypoplasia of brainstem. CT scan and echography of the kidney disclosed the bilateral multiple cysts. Liver was hyperechoic in echographic study; this finding is consistent with fatty change. EEG showed dysrhythmic slow wave activity with sporadic spike and wave complex. Compared with previously reported cases, the present case has the following features: (1) slowly progressive renal insufficiency, (2) generalized tonic clonic convulsion developing from the age of 11 months, (3) ABR abnormalities including the right-sided shortening of wave I-II interpeak latency and bilateral ill-defined wave V. Slow progress of renal failure in our case may reflect the mild pathological process of the kidney with sparing functional nephrons. It shows the diversity of the kidney pathology in Arima's syndrome. Epilepsy is a less common association in the syndrome, whereas EEG abnormalities were reported. ABR abnormalities may reflect the morphological alteration of the brainstem structure including auditory pathway. In our case it is uncertain whether the neonatal tachypnea was due to birth asphyxia or brainstem malformation responsible for abnormal respiration as suggested in Joubert's syndrome.
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PMID:[Cerebro-oculo-hepato-renal syndrome (Arima's syndrome) with slowly progressive renal insufficiency and epilepsy]. 176 Feb 7

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12 M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hypodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.
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PMID:[Congenital muscular dystrophy: clinical study of 17 patients]. 180 25

l-Carnitine occurs naturally as an essential cofactor of fatty acid metabolism which is synthesised endogenously or obtained from dietary sources. In patients with primary carnitine deficiencies, which may be life-threatening, and some secondary deficiencies such as organic acidurias, the exogenously administered compound is clearly beneficial: by abolishing hypotonia, motor skills are improved, as are muscle weakness and wasting. In preliminary clinical trials in patients with ischaemic cardiac disease, therapy with l-carnitine has shown beneficial effects on myocardial function and metabolism and has improved exercise tolerance in patients with angina pectoris-findings which require further substantiation in larger controlled studies. Moreover, while some interesting evidence suggests that l-carnitine may find potential use in such diverse conditions as carnitine deficiencies secondary to prolonged total parenteral nutrition supplementation or chronic haemodialysis, hyperlipidaemias and the prevention of toxicity induced by anthracyclines and valproate, such findings must be regarded as preliminary. Exogenously administered l-carnitine is very well tolerated. Thus, while its role in primary deficiencies is established, with its profile of negligible toxicity l-carnitine is worthy of further investigation to more clearly define its therapeutic applications in a variety of conditions which may be indirectly related to alterations in fatty acid metabolism.
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PMID:l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism. 330 9

We describe the distribution, progression, and resolution of muscle weakness, wasting, and hypotonia in three infants with rickets due to different causes. Progressive muscle weakness affecting preferentially the proximal muscles of the legs and failure to gain weight were the presenting symptoms. The skeletal signs appeared later in the course of the illness and the time for resolution of the neuromuscular findings varied with the etiology of the disorder.
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PMID:Muscle weakness in infants with rickets: distribution, course, and recovery. 350 85

A 73-year-old woman (patient 1) developed progressive mental deterioration at age 63, and seizures at age 70. On examination, she showed severe dementia, tonic clonic convulsion, hypotonia and muscular wasting. There was neither myoclonus nor cerebellar ataxia. Brain CT revealed a low density area in the right occipital lobe. A 44-year-old man (son of the patient 1) developed unsteady gait at age 15, muscle twitching at age 18 and then noticed speech disturbance at age 35. He had no history of convulsive seizure. Neurological examination showed cerebellar ataxia, myoclonus in the extremities and mild muscular weakness. His intelligence was normal. Brain CT showed moderate atrophy of the pons and the cerebellum. Both cases showed the same mitochondrial DNA mutation as reported previously in patients with MERRF. However, the clinical features, the age of onset and the brain CT findings were totally different between these 2 cases. In the progress of mitochondrial genetic analysis, atypical forms in MERRF like the patient 1 would increase in number, and the wide variation of clinical symptoms should be considered.
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PMID:[Two cases of MERRF (myoclonus epilepsy associated with ragged red fibers) showing different clinical features in the same family]. 812 82

This study investigates the long-term neuropsychiatric manifestations of single or combined chemicals: manganese; zinc phosphide; lead, mercury, and TNT; and pesticides among exposed industrial workers. We found that 75% of the exposed subjects as a whole and 50% of those exposed to each of Zinc phosphide and pesticides presented with more than one neuropsychiatric symptoms or signs. The main signs were mask faces, hyporeflexia, hyperreflexia, peripheral neuropathy, static tremors, radiculopathy, muscle weakness, mental changes, fasciculations and tremors, wasting, hypotonia, abnormal deep reflexes, and sensory hyposthesia. Neurological manifestations were confirmed by electromyography and their severity was related to the duration of exposure and confirmed as well by electroencephalography. These results are discussed and their implications high-lighted.
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PMID:Neurobehavioral changes among workers in some chemical industries in Egypt. 824 23

Congenital muscular dystrophy (CMD) is a concept applied to infants showing muscular weakness and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy. Patients with Fukuyama-type CMD (FCMD), characterized by progressive muscular dystrophy, mental retardation and occasionally, convulsions, are more frequently seen in Japan than those with non-Fukuyama type CMD (NFCMD). FCMD has been regarded as a distinct clinical and pathological entity, although the nosologic status of CMD is still controversial. A 24-year-old man had exhibited hypotonia and weakness at birth and delay in early development. During childhood, his muscular weakness improved, and he rode a bicycle and enjoyed skiing. However, his strength began to deteriorate at the age of 19 years. Neurological examination on admission revealed prominent muscular wasting and weakness, predominantly in the proximal limbs. He had ocular involvement (corneal opacity and slow saccades), sensorineural deafness, and a high-arched palate, saddle nose and funnel chest as anomalous conditions. Serum CK was moderately elevated and EMG showed myogenic patterns. A muscle biopsy specimen of the left biceps brachii was dystrophic, showing increased variation in fiber size with fibrous tissue proliferation, an increased number of centralized nuclei, fiber splitting and degenerating/regenerating fibers. Those findings were compatible with those seen in NFCMD. In Japan, only one patient with NFCMD who was followed to adulthood has been reported. This patient's symptoms progressed very slowly. The present patient's course of illness was stable during childhood but progressive in early adulthood. It suggests heterogeneous clinical expression of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness]. 837 Feb 3

A male infant, born from consanguineous parents, suffered from birth with a progressive neuromuscular disorder characterized by psychomotor delay, hypotonia, muscle weakness and wasting, deep-tendon areflexia and spastic posture. High levels of lactic acid in blood and cerebrospinal fluid suggested a mitochondrial respiratory chain defect. Muscle biopsy revealed ragged-red and cytochrome c oxidase-negative fibres, lipid accumulation and dystrophic changes. Multiple defects of respiratory complexes were detected in muscle homogenate, but cultured fibroblasts, myoblasts and myotubes were normal. Southern blot analysis showed markedly reduced levels of mitochondrial DNA (mtDNA) in muscle, while lymphocytes, fibroblasts and muscle precursor cells were normal. Neither depletion of mtDNA nor abnormalities of the respiratory complexes were observed in innervated muscle fibres cultured for as long as 4 months. No mutations were observed in two candidate nuclear genes, mtTFA and mtSSB, retro-transcribed, amplified and sequenced from the proband's mRNA. Sequence analysis of the mtDNA D-loop and of the origin of replication of the mtDNA light strand failed to identify potentially pathogenic mutations of these replicative elements in the proband's muscle mtDNA. Our findings indicate that mtDNA depletion is due to a nuclear encoded gene and suggest that the abnormality underlying defective mtDNA propagation must occur after muscle differentiation in vivo.
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PMID:Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. 855 15


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