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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The term 'long term neurological cripple' is an unattractive and yet an all embracing one, covering a wide spectrum of disorders from spina bifida or cerebral palsy with or without associated epilepsy and behavioural and learning problems, through muscular dystrophy, multiple sclerosis, and motor neurone disease, to the effects of head injury, cerebrovascular lesions and the degenerative disorders of later life such as Parkinson's disease and the senile and presenile dementias. Whilst many of the problems are common to several of these entities, each has its own particular aspects.
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PMID:The support of the long term neurological cripple. 10 16

Fukuyama type Congenital Muscular Dystrophy, inherited autosomal-recessively, is characterized by muscular dystrophy associated with severe mental retardation and epileptic convulsions. By examining 56 cases, followed for more than three years, 75 EEG records from 40 patients and visual evoked potentials from 11 patients with reference to autopsied materials, the authors aimed at clarifying the causative relationship between congenital central nervous system (CNS) lesions and childhood epilepsy. In 36 out of 56 cases diffuse epileptic seizures were observed with onset at 1.64 +/- 1.01 years average. In 32/36 cases seizures developed before 3 years of age. In 51/75 EEGs focal paroxysmal discharges (FPD), fronto-contro-parietal in younger and centro-occipital in older cases, were observed. Abnormal basic activities (ABA), diffuse-alpha-activity and/or abundant or extreme spindles, were observed more often in older than younger cases. The incidence of FPD was similar between convulsive and non-convulsive cases, but ABA predominated in the former, VEP revealed abnormal findings in 64% of 11 cases examined. Of the CNS pathology, consisting of cerebral and cerebellar gyral abnormalities and a hypoplastic corticospinal tract, the gyral lesions (verrucous polymicrogyria with adhesions of adjacent gyri and cellular disarrangement) were thought to be lesions causing epilepsy. Cortical nonprogressive gyral lesions occurring around the second trimester could cause FPD and clinical diffuse epileptic seizures develop with other factors concerned with ABA.
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PMID:Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy. 12 66

In skeletal muscle isoenzymes of CK were determined by immunprecipitation and chromatography. The activity of CK-MB was between 17 and 47 U/g muscle, corresponding to a quota between 2,1 and 4,2% of the total activity. In sera of patients with muscular dystrophy, polymyositis, hypothyroidism, after arterial embolism, epilepsy, hyperventilation, operations and polytrauma with and without injury to the thorax isoenzymes were measure by immune precipitation- and immune inhibition-test. The percentage of CK-MB in all sera was less than 6% of the total CK-activity (range: 0 to 6%). Only patients in the first day after neurosurgical operations showed a quota till to 6.5% CK-MB. In serum of patients after polytrauma without injury to the thorax the percentage of CK-MB ranged from 0-5.7% while after polytrauma with injury to the thorax and a reasonable suspicion of a damage to the myocardium this quota was between 5.1 and 23.6% of the total activity. CK-BB activity was not detectable in any cases. Therefore a disease or damage of the skeletal muscle is more probable, if the percentage of CK-MB in less than 6%, because in sera of patients with myocardial infarction in the first 48 h after beginning of the symptoms this quota of CK-MB in the most cases in more than 6%.
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PMID:[Isoenzymes of creatine kinase: distribution in the skeletal muscle and in sera of patients with muscular diseases or damages (author's transl)]. 66 Nov 51

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.
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PMID:Familial adult-onset muscular dystrophy with leukoencephalopathy. 2432 85

Lissencephaly is in most cases a genetic anomaly of the brain development with agyria and/or pachygyria. It causes severe psychomotor retardation and epilepsy, which is often resistant to therapy. Some patients with type-I lissencephaly show cranial and facial dysmorphism and a deletion of chromosome 17p13.3 (Miller-Dieker syndrome). The isolated lissencephaly sequence occurs without these features. Patients with type-II lissencephaly present additional malformations of the posterior fossa and of the eyes (Walker-Warburg syndrome) and in some cases muscular dystrophy (cerebro-oculomuscular syndrome). Lissencephaly can be suspected with a high probability by its typical EEG. It is proved by imaging techniques. Therapeutic success is limited, the life expectancy is strongly reduced.
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PMID:[Lissencephalia syndromes]. 147 Jul 95

We have evaluated the CNS findings of 30 patients with congenital muscular dystrophy and normal mental development. The intelligence was estimated by psychological testing or school performance. There were more children of above average intelligence than expected. Neuroradiological examination was done to 15/17 patients still alive. White matter changes were seen in five and cerebral atrophy in four patients. Three patients had epilepsy, two mild, one drug resistant. The EEG did not reveal any common pattern, though there were various abnormalities in several children.
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PMID:CNS in congenital muscular dystrophy without mental retardation. 164 Oct 78

In this paper eight patients with myogenic or neurogenic muscle disorders are presented, in whom cardiomiopathy was also found. Six patients developed a dilated cardiomiopathy associated with neurogenic atrophies or progressive muscular dystrophy. In patients with Mb. Friedreich and HSNM type II together with the total dilatation of the septum hypertrophy was observed and in patients with spinal muscular amyotrophy of scapuloperoneal type atriomyopathy dominated. In two patients with mitochondrial disorders a hypertrophic cardiomyopathy was found. One of them had mitochondrial encephalomyoneuropathy and the other mitochondrial encephalopathy with myoclonic epilepsy. In none of them a restrictive cardiomyopathy was found. From the presentation could be concluded that in neurogenic muscle diseases and progressive muscular dystrophy respectively most frequently dilated cardiomyopathies have been developed. Hypertrophic cardiomyopathies are usually found in children with mitochondrial disorders.
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PMID:Cardiomyopathies in children with neuromuscular disorders. 175 40

The typical form of congenital muscular dystrophy (CMD) described in Western countries is generally considered different from its Japanese variant because of the absence of CNS involvement. Evaluations from both a clinical and a neuroradiological point of view were made of the CNS functions of 12 unselected Western children affected by CMD. In five patients, clinical observation and intelligence tests showed a mild to severe mental retardation. One of these patients suffered also from a severe form of epilepsy. In the same five patients, various degrees of white matter hypodensity, ventricular enlargement and cerebral atrophy were also detected. Similar neuroradiological abnormalities were also found in five of the seven children who did not have clinical symptoms or signs of CNS involvement. In one of these cases, necropsy neuropathological examination showed the gyral anomalies characteristic of the Japanese type of CMD. This study clearly indicates the high frequency of subclinical CNS alterations in typical Western CMD, suggesting that it should be considered a type of myoencephalopathy like its Japanese counterpart.
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PMID:Congenital muscular dystrophy: brain alterations in an unselected series of Western patients. 190 45

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
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PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

In a Nigerian town with a stable population of 20,000, a door-to-door survey was conducted, using a questionnaire involving a complete census and a simple neurological evaluation which had previously showed a 95% sensitivity and an 80% specificity for detecting neurological disease. Positive responders were evaluated and categorised, using agreed criteria for diagnoses. Nearly 100% cooperation was obtained. Life prevalence ratio for at least one episode of headache was 51/1000. Crude point prevalence ratio for migrainous headache was 5.3/100, and peak age-specific ratio was in the first decade. Prevalence ratio for epilepsy was 533/100,000 and peak age-specific prevalence ratio occurred in the 5-14 years age groups. The prevalence ratio for peripheral nerve disorders was 268/100,000, and age-specific prevalence ratio for tropical neuropathy increased with age. Prevalence ratio for stroke was rather low at 58/100,000, but was probably due to the people's attitude to the disabled elderly and high mortality of stroke which showed annual mortality rate of 70/100,000 which increased with age to 1519/100,000 per year in the eighth decade. Crude prevalence ratios (cases per 100,000) for others are 112 for neurological complications (including sciatica) of spondylosis, 15 each for poliomyelitis, motor neurone disease, development speech disorders, 10 each for syncope, hereditary neuropathies. Parkinson's disease, benign essential tremor, primary cerebellar degeneration, cerebral palsy, mental retardation, organic psychosis (probable intracranial tumor) and 5 each for muscular dystrophy, pyomyositis, spina bifida occulta, alcohol dependence and cerebral malaria. The implications of the findings are important for development of community neurological services in the developing countries.
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PMID:Neurological disorders in Nigerian Africans: a community-based study. 303 73


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