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 2-month-old girl with tyrosinase-positive oculocutaneous albinism (OCA) and severe muscle hypotonia is reported. She was admitted to our hospital because of poor sucking and poor weight gain. On physical examination she was found to have generalized muscle weakness and multiple anomalies including deafness, mental retardation, cataracta and a high-arched palate. A muscle biopsy showed marked variation in fiber size with bimodal distribution, suggesting a neuropathic process. Since electromyography showed a myopathic pattern, CK was definitely elevated and muscle histologic examination did not show any denervation of the type found in Werdnig-Hoffmann disease, the present disorder was assumed to be caused either by hardly developed motoneurons or by abnormal interaction between muscles and nerves.
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PMID:Muscle involvement in a case of oculocutaneous albinism. 293 23

We performed the first nationwide survey of myotonic dystrophy (MyD) in Japan. This paper reports the result of analysis of clinical pictures and disability of 670 patients found in this survey. 413 cases (61.6%) were males and 257 (38.4%) were females. Male/female ratio was approximately 1.6. The age of onset was most often in the third or fourth decade. Mean age of onset was 27.7 years in the males and 26.8 years in the females. Eight percent of the cases presented their symptoms before the age of 9 years. These cases were considered to belong to congenital or infantile form of MyD. There were also a few patients who started noticing their symptoms after the age of 60 years. Duration of the illness at the time of examination was approximately 13 years in both sexes. Myotonia was observed in 97.3% of the males and 98.1% of the females. Muscular weakness was seen in 99.0% of the males and 96.5% of the females. Atrophy was present in 93.5% of the males and 88.9% of the females. These data showed that almost all cases had these three major symptoms related to the skeletal muscles. There were 16 cases which lacked myotonia, and most of them belonged to congenital or infantile form of MyD. Cataract was present in more than a half of the patients (54.4% in the males and 52.0% in the females). Mental retardation was observed in 42.4% of the males and 35.9% of the females. Frontal baldness was seen much more frequently in the males (74.6%) than in the females (22.7%). Generally, as the duration of the illness was longer, these clinical symptoms were seen in higher frequency.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical symptoms and disability of myotonic dystrophy in Japan]. 319 98

Cleidocranial dysostosis (CCD) is a rare congenital disorder characterized by the heredity, the disturbance of the ossification of the skull and clavicles, and dental anomaly. The entity of CCD was established by Marie and Sainton in 1898. In Japan about 150 cases have been reported since Haneda's first report in 1933. Recently we experienced a rare case of CCD associated with the temporal arachnoid cyst. The patient was a 61-year-old male who had suffered from mild spastic paresis of the left upper extremity since his childhood. One morning he suddenly noticed motor weakness of the left upper and lower extremities and was transferred to our hospital. On admission we observed the left hemiparesis (MMT 3/5), the left central type facial palsy, and the left long tract signs. Physical examination disclosed frontal bossing, depression of the forehead, sloped shoulders, cone-shaped thorax, and thoracic scoliosis. Plain skull radiograph showed persistent metopic suture and frontal fontanelle, many wormian bones around coronal and lambdoid sutures. Plain radiographs of the systemic bones also showed typical features of CCD such as dysplasia of the lateral third of the bilateral clavicles, deformities of the cervical vertebral bodies, thoracic scoliosis, and wide symphysis. CT scan disclosed the right putaminal hemorrhage, the right temporal arachnoid cyst, enlargement of the right middle fossa, thinning of the temporal bone adjacent to the arachnoid cyst. It also showed the atrophy of the right cerebral peduncle and midbrain. Surgical treatment was performed to remove the hematoma and release the cyst. Several neurological disorders associated with CCD have been reported such as epilepsy, mental retardation, spastic paresis etc.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of cleidocranial dysostosis associated with arachnoid cyst]. 343 33

A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to walk more than 20 years after the onset. The persons affected with this syndrome were two brothers and their female cousin from a large Gujerati pedigree where consanguinity was high. Autosomal recessive inheritance is therefore suggested.
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PMID:Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. 347 31

According to a relative definition handicap arises in the relation between an individual (with a weakness, an impairment or a disability) and his/her environment. To identify handicap it is therefore necessary to use environmental criteria as well as individual ones. Several attempts have been made to take a relative definition as a basis for classification and research. These attempts, however, often end up using a traditional clinical perspective by reducing the highly complex environmental circumstances to the ability of the individual to handle those circumstances. This is the case with the terminology and classification schemes proposed by WHO (International Classification of Impairments, Disabilities and Handicaps: ICIDH). This is also what seems to have happened with the relative notion of mental retardation, presented 15 years ago in terms of "a social system perspective". One of the reasons might be the methodological problems involved in handling the complexity of social environmental factors. To transcend the clinical perspective and take the full consequences of the relative definition social and behavioral research need to focus on the social meaning of handicap as it manifests itself in daily life. This calls for an anthropological approach in studying the everyday lives of mentally retarded persons as well as studies of the role of the professional in labelling those persons.
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PMID:Relative definition of handicap: implications for research. 348 58

A caucasian male with a history of mental retardation and intractable epilepsy since birth, developed progressive wasting and weakness of skeletal muscles, leading to death at 4 years of age. A biopsy of gastrocnemius muscle at 2 years of age revealed severe neurogenic atrophy. Sural nerve biopsies at 2 and 3 years showed progressive atrophy and loss of large myelinated nerve fibers with a paucity of neurofilaments in remaining nerve fibers. Postmortem immunohistochemical and ultrastructural examination showed that neurons were markedly distended by phosphorylated neurofilaments. Whereas large lower motor neurons were most severely involved, dorsal root ganglia and neurons in the cerebral cortex and deep gray nuclei were also affected. It is suggested that this disease is caused by a disorder of neurofilament phosphorylation and transport.
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PMID:Infantile neurodegenerative disease with neuronal accumulation of phosphorylated neurofilaments. 357 92

Two siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria are reported. The clinical picture included protein intolerance, mental retardation, seizures, and stuporous episodes. One patient had cerebellar ataxia, myoclonus, convulsive seizure, and muscular weakness in both legs. Isolated liver mitochondria in the patient revealed that ornithine transport and citrulline synthesis were decreased, but urea cycle enzymes and ornithine aminotransferase were normal. Ornithine metabolism was decreased in cultured skin fibroblasts.
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PMID:Hyperornithinemia, hyperammonemia, and homocitrullinuria: case report and biochemical study. 367 Jun 19

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

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

Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85-fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.
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PMID:Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. 404 97


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