Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the case of a twelve-year-old patient presenting early autism associated with congenital muscular dystrophy--subtype IV, according to the subclassification of Fukuyama (slight mental retardation, ability to walk, muscle pseudohypertrophy). To our knowledge, this association has never been reported. Several factors may have played a causative role in the development of an autistic disorder in the patient. The authors suggest the following as the most significant ones: disharmonious personality, weak emotional structure, inadequate primary relation with the mother, poor environmental influences, frustrations encountered because of the muscular disorder.
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PMID:[Early autism and congenital muscular dystrophy: a clinical case]. 150 62

To evaluate the correlation of clinical symptoms and deletion of mitochondrial DNA (mtDNA) in CPEO, we examined brain MRI, lower limb SSEP and mtDNA in 19 patients (nine men, ten women) with CPEO averaging 44.9 years of age. Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis pigmentosa and an onset before the age of 20, as well as at least one of the followings: heart conduction block, cerebellar ataxia and elevated CSF protein. One patient was diagnosed as having probable KSS because the symptoms had begun at the age of 33. All patients with typical and probable KSS had one or more of the following common manifestations: mental retardation or dementia, hearing loss, short stature, and endocrinological disorder. All other 15 patients had ocular myopathy with limb muscle weakness. Total DNA was isolated from 19 biopsied muscles, and analyzed by the methods of Southern blot hybridization and PCR. Thirteen patients has heteroplasmy with the deleted and normal mtDNA, and six patients who had ocular myopathy did not have mtDNA deletion. The age of onset in the patients with mtDNA deletion averaged 23.0 years of age, while that without mtDNA deletion averaged 39 years of age. All KSS and two ocular myopathy patients shared the common site in mtDNA deletion, while nine with ocular myopathy showed the different sizes of deletion ranging from 2.3 to 9.5 kb in the different sites. Brain MRI was obtained from 12 of the 19 patients.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies]. 176 62

A 21-year-old man with childhood-onset mental retardation, non-obstructive hypertrophic cardiomyopathy, and vacuolar myopathy is presented. A histopathological study of biopsied skeletal muscle showed lysosomal glycogen storage mimicking acid maltase deficiency, but biochemical analysis showed normal acid alpha-glucosidase activity. Glycogenosomes were also recognized in endothelial cells on electronmicroscopic examination of biopsied skeletal muscle. Magnetic resonance imaging (MRI) findings in the head revealed the involvement of the central nervous system. This is a new type of lysosomal glycogen storage disease with multisystemic involvement. The specific biochemical defect in this disorder remains to be elucidated.
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PMID:Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. 179 62

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

Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The sole living child has severe psychomotor retardation. Several female carriers show mild features (clubfeet, contractures, hyperkyphosis, and slight muscle weakness). One manifesting carrier is affected more severely (multiple contractures, mental retardation, and various dysmorphic features). Additional investigations including muscle biopsy revealed none of the usual signs of denervation, and pointed to the presence of a degenerative muscle disorder.
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PMID:A family with severe X-linked arthrogryposis. 191 20

A 15-year-old boy with increased serum creatine kinase (hyper-CK-emia) due to hypocalcemia in turn caused by idiopathic hypoparathyroidism (HP) is presented. Hyper-CK-emia was incidentally noted while managing a patient, aged nine, with mental retardation, epilepsy and mild hypocalcemia. Neurological examination showed normal deep tendon reflexes and no muscle weakness; electromyogram was normal. The hyper-CK-emia normalized during treatment for the hypocalcemia. Previously reported patients with hypocalcemic hyper-CK-emia or myopathy together with HP are discussed, as well as the degree of hypocalcemia and the wide spectrum of the muscle dysfunction.
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PMID:Hypocalcemic hyper-CK-emia in hypoparathyroidism. 219 51

A case of 25-year-old woman with glycogen storage myopathy is reported here. She was hospitalized for acute heart failure after alcohol drinking. The electrocardiogram on admission showed marked ST elevation. Laboratory data showed elevated levels of serum myogenic enzymes but no rise in cardiomyogenic enzyme: CK 3862 IU/l CK-MB 35 IU/l, LDH 427 IU/l, GOT 203 IU/l. After several days, she recovered from acute heart failure and could walk without supporting. ST elevation in ECG and elevated myogenic enzymes were also normalized. The occurrence of acute myocardial infarction was ruled out because a coronary angiogram and 99 Tcm scintigram were normal. Physical examination revealed proximal muscular weakness and mental retardation (WAIS, total 72). Venous lactate response was normal after semi-ischemic forearm exercise. PAS staining of muscle specimen showed an excess deposit of glycogen. Ragged-red fibers were not seen on Gomori-trichrome stain. By electron microscopy, a large amount of glycogen particles were demonstrated in the subsarcolemma, but there were no abnormal mitochondrial changes. Biochemical analysis showed accumulation of glycogen in muscles: 28.7 mg/g muscle (normal 11.4 +/- 4.2 mg/g muscle). The activities of enzyme in the pathway of glycogen and glycogenosis (alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase a, phosphorylase kinase, phosphofructokinase, etc.) were within normal limits. The spectrum of glycogen iodine complex was normal. Our case was different from any type of muscle glycogen storage disease previously reported. The etiology of an excess of glycogen deposit in muscles is unknown.
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PMID:[A case of glycogen storage myopathy with acute heart failure]. 220 34

Morphological changes are shown in the muscle biopsy specimens of an 8-year-old girl who suffered from a triosephosphate isomerase (TPI) deficiency, resulting in a chronic, nonspherocytic, hemolytic anemia, mental retardation and neuromuscular impairment. The newly introduced enzyme histochemical reaction for TPI demonstrated a total lack of histochemically detectable enzyme activity, whereas biochemical analysis of muscle tissue revealed less than 10% of the normal enzyme activity. Electron microscopy showed a degenerative myopathy with an increase in the amount of intracellular glycogen. Additionally, mitochondrial changes within the muscle fibers were observed to be similar to those in mitochondrial myopathies. The disturbed balance between glycerin-aldehyde phosphate and dihydroxyacetone phosphate, due to the deficiency of the TPI enzyme, is interpreted as the biochemical background of an impaired electron transport across the mitochondrial membrane, resulting in the coexistence of an impaired glycolytic pathway and an impaired mitochondrial metabolism of muscle cells.
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PMID:Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency. 233 91

The authors emphasize the importance of adding a genetic criterion to the definition of Duchenne dystrophy. The clinical characteristics, however, on the basis of recent molecular genetic studies, are sufficiently precise to make the condition heterogeneous: two types of Duchenne dystrophy, with or without mental retardation in affected boys; muscular dystrophy in girls with mild symptomatic weakness in "manifesting carriers" up to severe myopathy in girls, found to be associated with reciprocal chromosomal translocation (X-autosome), always at the same site, Xp21. Diagnostic use of Xp21 probes is now as necessary as EMG, muscle biopsy and serum CK assay for the definition of Duchenne muscular dystrophy.
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PMID:[Present-day clinico-genetic framework of Duchenne's muscular dystrophy]. 266 13


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