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Query: UMLS:C0025362 (mental retardation)
 15,878 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

Three syndromes are presented in which major midline malformations of the central nervous system were associated with characteristic somatic and neurologic features in 2 or more sibs. The malformations may be suspected on clinical grouds but require confirmation by pneumoencephalography. In 3 French-Canadian sibships from the Saguenay-Lac St. Jean area of Quebec, patients with areflexia, muscular wasting and slowly progressive weakness in a paraparetic distribution were proved to have agenesis of the corpus callosum and anterior horn-cell disease, a syndrome not previously described. In another family, mental retardation, ataxia and episodic hyperpnea were associated with agenesis of the cerebellar vermis in 4 sibs. In yet another French-Canadian family, atrophy of the cerebellar vermis was associated with mental retardation, ataxia and a mild pyramidal syndrome. Because malformations of this nature are usually considered sporadic or multifactorial in origin, recognition of these specific clinical syndromes with probable autosomal recessive inheritance is important from the point of view of genetic counseling and prevention.
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PMID:Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis. 122 32

A previously undescribed form of complicated hereditary spastic paraplegia with epileptic myoclonus in four affected offspring of consanguineous parents is reported. The disorder was inherited as an autosomal recessive trait. Age at onset varied from the prenatal period to 10 years. The main findings when examined between 26 and 42 years of age were spastic paraplegia, epileptic myoclonus, distal muscle atrophy, mental retardation or dullness, ataxia, hearing loss and a progressive course. The difference in phenotypic expression was striking. One woman had progressive epileptic myoclonus, ataxia and only slight distal wasting and could have been misdiagnosed as a case of Unverricht-Lundborg's disease. Thorough biochemical investigations revealed no cause of the disorder.
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PMID:Hereditary spastic paraplegia with epileptic myoclonus. 195 Apr 52

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

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

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

Recent psychological testing and neuropathologic studies support the occurrence of relative retardation, an in some cases severe retardation, in patients with Duchenne muscular dystrophy. Muscle deterioration and wasting are associated with the natural progression of the disease. Progressive physical weakness can be described in the following stages: early, walking, wheelchair, and late. The more emotionally mature the family, the more effective they are in coping at each stage of the disease. Nevertheless, a constant stress is present in all families. This stress can increase or plateau at the various stages and as new problems are encountered. When mental retardation is significant, the stress on the family become even more marked.
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PMID:Challenges in the care of the retarded child with Duchenne muscular dystrophy. 720 93

A 6-year-old boy with hereditary motor and sensory neuropathy (HMSN), congenital cataract and mental retardation was reported. The condition commenced with distal weakness and wasting of lower limbs. Subsequently marked right pes cavus and equinovarus deformity appeared. Motor and sensory conduction velocities in the limbs were slowed. Pathological examination of biopsied sural nerve showed significant loss of large myelinated fibers. Neither demyelination nor onion bulbs were observed. For clinical and neuropathological findings, the present case did not fit in with previously reported cases of HMSN. The case was classified as a new variant of HMSN type II.
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PMID:[A case of hereditary motor and sensory neuropathy with congenital cataract and mental retardation]. 761 92

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

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.
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PMID:[Charcot-Marie-Tooth disease. Clinical study in 45 patients]. 858 9


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