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

Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding an MtPK. Infants with congenital DM are shown to have on average a greater amplification of the CTG repeat than is seen in the noncongenital DM patients. The major clinical features of congenital DM are bilateral facial weakness, hypotonia, feeding difficulties, respiratory distress, delayed motor development and mental retardation. We present 6 patients, aged 11-35 years, from unrelated 5 families with clinical symptoms of congenital DM. The four of the patients were inherited paternally and only one showed a reduction in the CTG repeat size.
 ...
PMID:[Clinical and molecular genetic analyses of congenital myotonic dystrophy]. 943 43

Abnormalities in the muscle dystrophin-glycoprotein complex are implicated in the molecular pathogenesis of various neuromuscular disorders. Weakening of the trans-sarcolemmal linkage between the actin membrane-cytoskeleton and the extracellular matrix appears to trigger destabilization of the muscle cell periphery. In addition to muscular weakness, one-third of patients suffering from Duchenne muscular dystrophy exhibit mental retardation. Since little is known about the pathophysiology of brain abnormalities in these patients, we investigated the fate of the most abundant dystrophin-associated protein, beta-dystroglycan, in the central nervous system. It was found to be present throughout all normal brain regions studied. In contrast, this glycoprotein was greatly reduced in brain microsomes derived from Duchenne specimens, while it is of normal abundance in the brain from the dystrophic animal model mdx. Deficiency in brain beta-dystroglycan might render nervous tissue more susceptible to cellular disturbances and this may result in cognitive impairment in some Duchenne patients.
 ...
PMID:Decreased expression of brain beta-dystroglycan in Duchenne muscular dystrophy but not in the mdx animal model. 970 63

Two cases of early onset facioscapulohumeral muscular dystrophy (FSHD) with mental retardation and epilepsy are reported. They were sporadic, unrelated, severely affected females. In both cases, Southern blot analysis of the EcoRI-digested genomic DNA, using probes p13E-11 and pFR-1, detected the shortest 10 kb EcoRI fragments reported to date. Patient 1 showed infantile spasms at the age of 4 months and localization-related epilepsy at the age of 2.5 years. Muscular atrophy in the face, shoulder girdle and upper arms was observed from the age of 4 years. In Patient 2, lack of facial expression was noticed since the age of 1 year, and at 4 years she was noted to have a loss of bilateral upward gaze. She developed localization-related epilepsy at the age of 9 years. From the age of 10 years, weakness of the lower limbs progressed and she became wheelchair-bound at the age of 14 years and 8 months. She had moderate sensorineural hearing loss, a loss of bilateral upward gaze and tongue atrophy. Their IQs were 33 and 45, respectively. The two patients suggest that mental retardation and epilepsy may be part of the clinical spectrum of FSHD, especially in very early onset patients with large deletions.
 ...
PMID:Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. 981 May 58

The patient was a 61-year-old man who suffered from gait disturbance since childhood. He also had mental retardation. Gait disturbance was slowly progressive. His mother, sister, brother and son of his sister suffered from gait disturbance. On neurological examination, he showed mental retardation, optic nerve atrophy and neural deafness. He also showed severe muscle atrophy and weakness of bilateral lower limbs associated with pes cavus. Muscle tonus of lower limbs and patellar tendon reflex were increased bilaterally. Achilles tendon reflex was absent. Babinski and Chaddock signs were positive. Superficial and deep sensations were almost normal. There were no cerebellar signs. Blood chemistry was normal. On nerve conduction studies, motor nerve conduction velocity of the upper limbs was normal and that of the posterior tibial nerve was decreased; right 36.0m/sec, left 29.7m/sec. Sensory nerve conduction velocity of the median nerve was slightly decreased; right 36.5m/sec, left 45.2m/sec and sural nerve did not respond to electric stimuli. On sural nerve biopsy, the density of myelinated fibers was severely decreased. Onion bulb formation was not observed. We classified this case as hereditary motor and sensory neuropathy (HMSN) type II based on nerve conduction studies and findings from sural nerve biopsy. HMSN with pyramidal tract sign has been classified as type V and HMSN with optic nerve atrophy as type VI. This case had characteristic symptoms as type V and VI. Histopathological findings of HMSN type V and VI have not been established yet. This case might provide an important clue for classification of HMSN.
 ...
PMID:[A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation]. 1034 45

We performed a retrospective analysis of 394 patients who were treated for active tuberculosis (TB) at our hospital from 1976 to 1997. The diagnosis criteria for establishing TB were history of direct contact with TB patients, tuberculin skin test reactivity, positive bacteriology and radiographic findings compatible with TB. There were 192 males and 202 females (age range 1 month to 18 years of age, mean 6.3 years of age). Fifty-four percent of the cases were under 5 years of age. Primary pulmonary TB was presented in 200, post primary pulmonary TB in 97, pleural effusion in 53, endbronchial TB in 4, TB meningitis (TBM) in 28, miliary TB in 28 and other extra-pulmonary TB in 31. A history of contact with the patients was obtained in 72.8% of cases. Two hundred and thirty (58.4%) had received BCG, 134 (34%) no BCG, 30 (7.6%) were unclear. Especially, under 5 years of age, only 29 (13.6%) had received BCG. TBM is not disappeared in Japan and there were 28 cases with TBM. Fifteen patients out of them recovered completely, 8 patients recovered with severe neurological sequelae which included mental retardation, motor weakness, seizures and hydrocephalus and 5 patients died. Twenty-six had no BCG. Particularly in 1990s, we had experienced 4 dead TBM cases, 1 multi-drug resistant (MDR) TBM case and 1 TBM case due to nosocomial infection. Children with TBM should received 12-month regimen using initial daily treatment with isoniazid, rifampin, pyrazinamide, and streptmycin, followed by isoniazid and rifampin administered daily. Pulmonary TB in children is successfully treated with 6-month standard chemotherapy using isoniazid, rifampin, and pyrazinamide daily for 2 months, followed by isoniazid and rifampin daily for 4 months. In order to promote TB control and eliminate childhood TB, especially in infants, the following is necessary; 1) early detection and treatment of adult TB patients, source of infection, 2) prompt and appropriate contact examination and chemoprophylaxis, 3) BCG vaccination during early infancy, 4) protection from MDR TB are most important in Japan.
 ...
PMID:[The current situation and treatment of childhood tuberculosis]. 1035 23

We report on two siblings that have been followed for 14 years, with merosin-positive congenital muscular dystrophy (CMD), cataract, retinitis pigmentosa, dysversion of the optic disc, but no cerebral anomalies, except for microcephaly and slight mental retardation (MR). The younger child had three generalized seizures easily controlled by anticonvulsant therapy. Both children presented hypotonia from birth, delayed psychomotor development, generalized muscular weakness, and atrophy and joint contractures of knees and ankles. The course of the disease, apparently static during the first 10 years of life, became progressive during the second decade with loss of deambulation by the age of 13. Creatine kinase was increased in both children. Bilateral cataract was diagnosed at 6-months of age. In spite of the occurrence of microcephaly, MR was slight and the siblings acquired reading and writing skills after the aged 10. Head magnetic resonance imaging showed normal results in both siblings. The classification of these cases within the broad spectrum of CMD is difficult since most of the known muscle-eye-brain syndromes generally show severe MR and brain anomalies. We consider these cases as corresponding to the rarer syndromes of merosin-positive CMD with associated features such as cataract and MR that were particularly emphasized during the 50th ENMC International Workshop on CMD [Dubowitz V. Workshop report: 50th ENMC International workshop on congenital muscular dystrophy. Neuromusc Disord 1997;7:539-547]. Further genetic, pathological, neuroradiological, and immunocytochemical studies will be necessary for better elucidation of the classification and pathogenesis of CMD.
 ...
PMID:Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation. 1039 52

This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.
 ...
PMID:The Camera-Marugo-Cohen syndrome: report of two new patients. 1175 73

We present a patient with external ophthalmoplegia, bilateral ptosis, progressive muscle weakness with "ragged-red fibres" and mental retardation. Mitochondrial DNA analysis by Southern blot revealed heteroplasmy in muscle for a 7.4 kb deletion. In white blood cells, the deletion was only detectable by PCR. There was no evidence for duplications, nor for multiple deletions in the proband or siblings. PCR analysis did not reveal the presence of a mitochondrial DNA defect in the parents and siblings. Thus, there is no experimental support for a maternally inherited mitochondrial DNA deletion. We consider this a sporadic case with a de novo deletion. Diabetes and complaints of fatigue, also seen in this family, are probably coincidental. Mental retardation has been reported occasionally in patients with mitochondrial deletions, but is not common.
 ...
PMID:A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. 1054 1

We report a 20-year-old female who presented with congenital non-progressive cerebellar ataxia, pigmentary retinal degeneration, fiber type disproportion, hypercreatine kinasemia and mental retardation. No family history of neuromuscular disorders was found. There was consanguinity between the grandfather and grandmother. Pregnancy and delivery were uneventful. Although neck control was obtained at three months old, she could walk at 23 months old. She had a tendency to tumble. Her mentality was retarded. At 12-years-old, she was diagnosed as having pigmentary retinal degeneration. When she visited to our hospital at 20-year-old, she had slight scoliosis. Neurological examination disclosed mental retardation, pigmentary retinal degeneration, gaze evoked nystagmus on horizontal gaze and proximal dominant muscle weakness. Tandem gait was unsteady. Deep tendon reflexes were slightly hyperactive in all four extremities. The serum creatine kinase was elevated to 2346U/l. Muscle biopsy revealed type I. fiber atrophy and predominance. This case is therefore considered to be cogenital non-progressive cerebellar ataxia presenting with fiber type disproportion, pigmentary retinal degeneration and hypercreatine kinasemia.
 ...
PMID:[A case of congenital non-progressive cerebellar ataxia with pigmentary retinal degeneration, fiber type disproportion and hypercreatine kinasemia]. 1061 55

A 29-year-old male who had a past history of mild ECG abnormality of arrhythmia at the age of 14 years, was referred to our hospital because of elevated serum creatine kinase (CK) level. He had never been aware of muscular weakness nor cardiac symptoms. Neurological examination revealed normal muscle strength of all extremities except marked back muscle weakness. He had normal intelligence. On laboratory examination, serum AST, ALT, LDH, aldolase, CK and myoglobin levels were elevated. Both lactate and pyruvate levels were normally responded after an ischemic exercises test. Acid maltase activity was normal in white blood cells. A muscle biopsy obtained from rectus femoris muscle revealed vacuolar myopathy with mildly increased PAS positive material. On electron microscopy, there were autophagic vacuoles scavenging glycogen particles and cytoplasmic debris, and sarcolemmal indentation, compatible with the findings of lysosomal glycogen storage disease with normal acid maltase. This patient had unusual clinical features of absent mental retardation and no apparent cardiomyopathy. Accordingly, mental retardation is probably not necessary to see later onset of cardiac muscle involvement.
 ...
PMID:[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. 1088 38


<< Previous 1 2 3 4 5 6 7 8 9 10