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)

A 3-year-old boy was seen because of delayed developmental milestones, waddling gait, nonprogressive proximal muscle weakness and hyporeflexia. Serum creatine kinase levels were normal and EMG was non-diagnostic. Muscle biopsy revealed complete absence of type 2 A and 2 B fibers in addition to a moderate variation in fiber size. Diagnostic findings for congenital nonprogressive myopathies were not present such as nemaline bodies, cores, targetoid structure, central nuclei or selective type 1 fiber atrophy. This was the first case of a distinct form of non-progressive congenital myopathy, "congenital neuromuscular disease (myopathy) with uniform type 1 fibers", accompanied with mental retardation in Japan.
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PMID:[Congenital neuromuscular disease with uniform type 1 fibers : a case report]. 204 74

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

An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. DNA analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.
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PMID:An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA. 228 21

The relationship between serum creatine kinase brain-specific isoenzyme (CK-BB) activity immediately after birth and neurodevelopmental outcome at two and four years corrected age was studied prospectively in 45 preterm infants (less than 34 weeks gestation). Nine infants died during the neonatal period and one was lost to follow-up. Of the 35 children available for follow-up, seven had motor disabilities: four severe diplegia, two mild to moderate diplegia and one hemiplegia. No relationship existed between these motor disabilities and serum CK-BB activity after birth. There seemed to be a relationship between increased serum CK-BB after birth and low scores on the Bayley Scales of Mental Development, but this did not reach statistical significance. At the age of four years, four of the five survivors with high serum CK-BB activity after birth (greater than 25U/L) needed special schooling because of mental retardation. Increased serum CK-BB activity after birth may be associated with delayed mental development, but further study is needed, especially of asphyxiated infants.
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PMID:Serum CK-BB activity in the preterm infant and outcome at two and four years of age. 236 44

A large family with X-linked mental retardation, originally reported in 1944 by Allan, Herndon, and Dudley, has been reinvestigated. Twenty-nine males have been affected in seven generations. Clinical features include severe mental retardation, dysarthria, ataxia, athetoid movements, muscle hypoplasia, and spastic paraplegia with hyperreflexia, clonus, and Babinski reflexes. The facies appear elongated with normal head circumference, bitemporal narrowing, and large, simple ears. Contractures develop at both small and large joint. Statural growth is normal and macroorchidism does not occur. Longevity is not impaired. High-resolution chromosomes, serum creatine kinase, and amino acids are normal. This condition, termed the Allan-Herndon syndrome, appears distinct from other X-linked disorders having mental retardation, muscle hypoplasia, and spastic paraplegia.
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PMID:Allan-Herndon syndrome. I. Clinical studies. 203 42

Molecular genetics has transformed clinical concepts of Duchenne muscular dystrophy (DMD) in several different ways. (1) The disease can now be defined as a myopathy due to mutation at Xp21, a specific locus on the short arm of the X chromosome. (2) As a consequence of that discovery, any myopathy due to mutation at Xp21 should be a variant of DMD and should affect the same gene product. Moreover, any myopathy due to mutation at a location other than Xp21 should affect some other gene product. (3) For these reasons, DNA analysis is now needed for clinical diagnosis of muscle disease. (4) Xp21 myopathies may be mild or severe, may occur in females even though X-linked, and may be manifest only by high serum levels of creatine kinase. (5) Mental retardation is not consistently related to diseases that are encoded at Xp21. The association of mental retardation with DMD may be due to mutation in a separate gene near that for DMD. Concepts may soon be altered again as we learn about the affected gene product (dystrophin) and its role in these diseases.
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PMID:Clinical concepts of Duchenne muscular dystrophy. The impact of molecular genetics. 328 82

An 8-year-old boy with vitamin D-deficiency rickets, increased serum creatine kinase (CK), and hypocalcemia is described. At 5 years of age, he was evaluated because of recurrent tonic seizures. He had growth retardation, microcephaly, quadriplegia, mental retardation, and epilepsy. Muscle strength was difficult to assess because of multiple joint contractures. Deep tendon reflexes were hyperactive. Laboratory data indicated rachitic changes on x-ray, hypocalcemia, low serum 25-hydroxyvitamin D3 (25-OH-D) and 1-alpha-25-dihydroxyvitamin D3 (1-alpha-25-[OH]2-D) levels, a normal response to the Ellsworth-Howard test, and markedly increased CK. Electromyography and nerve conduction velocities were normal. The patient responded to 1-alpha-OH-D treatment with increased serum calcium and normal CK activity; a significant correlation (p less than 0.01) was observed between calcium and log CK. The clinical course and laboratory findings supported the hypothesis that the increased CK was due to hypocalcemia, which in turn was due to the vitamin D deficiency in the severely handicapped child with malnutrition.
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PMID:Increased serum creatine kinase due to hypocalcemia in vitamin D deficiency. 350 46

Two 10-year-old boys with mental retardation and myopathy which were present since birth are described. Both had elevated serum creatine phosphokinase (CK) and one of them had a positive family history. The clinical features were consistent with Fukuyama type congenital muscular dystrophy, but muscle biopsies suggested an inflammatory process. Adrenal cortical steroids were given and they were followed up until 10 years of age. Serum CK showed a significant response to the treatment, and mental retardation in case 1 and motor dysfunction in case 2 improved. It is postulated that an inflammatory process might be a causative factor in some patients with congenital muscular dystrophy.
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PMID:Ten years follow up study of steroid therapy for congenital encephalomyopathy. 376 4

During the years 1971-81, we treated 7 girls with clinical features suggestive of Duchenne dystrophy. Muscle weakness developed at 1.5 or at 5-8 years and progressed rapidly. Two girls were in wheel-chairs in their teens. Muscle atrophy began in the proximal parts of the lower extremities and pseudohypertrophy of the calf occurred in all patients. Serum creatine phosphokinase (CPK) activity was moderately to highly elevated in all cases and EMG showed a moderate to marked myopathic pattern. Chromosomal studies showed normal finding in the five examined. Mental retardation (IQ 37-73) was present in four. Consanguinity was present in 3 out of the 7 cases. Two mothers showed elevated levels of CPK and myopathic patterns on EMG. In addition, one mother had slight muscle weakness at the age of 42 and another had prominent pseudohypertrophy of the calf. Sex-linked recessive inheritance might be considered here, because carriers of autosomal recessive type never showed elevated levels of CPK or mild myopathic symptoms. The other five of our seven might be cases of autosomal recessive inheritance, because the mothers had normal serum CPK levels and in 2 families there was a consanguinity.
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PMID:Clinical and genetic studies of muscular dystrophy in young girls. 395 63


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