Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (mean, 274.4 micrograms/L) and congenital (Fukuyama-type) (182.8 micrograms/L) and limb-girdle (203.7 micrograms/L) dystrophies and positively correlated with the activities of CK in patients with DMD. CA-III concentration decreased with the subjects' age and the severity of the disease, similar to the tendency observed between age or severity and the concentration of CK. We found moderately increased CA-III in patients with polymyositis, myotonic dystrophy, amyotrophic lateral sclerosis, spinal progressive muscular atrophy, or Kugelberg-Welander disease and in carriers of DMD.
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PMID:Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase. 189 62

We evaluated glutamine synthetase (GS) and alanine aminotransferase (GPT) activities in biopsied muscle from 40 cases of various neuromuscular diseases. GS and GPT catalyze the synthesis of glutamine and alanine, respectively, from amino acids derived in part from the breakdown of muscle proteins. The subjects were 7 cases of muscular dystrophy; 1 Duchenne type (DMD), 3 limb-girdle type, 2 facioscapulohumeral type (FSH), 1 Fukuyama type (FCMD); and 1 myotonic dystrophy (MyD); 5 mitochondrial myopathies; 11 inflammatory myopathies including 6 polymyositis and 3 myopathy associated with collagen disease; 5 endocrinological myopathies including 2 periodic paralysis; and, 11 cases of neurogenic amyotrophies [4 amyotrophic lateral sclerosis (ALS), 4 spinal progressive muscular atrophy (SPMA) and 3 other types]. Control subjects were 8 patients with thigh operations. Biopsied muscle was homogenized and assayed for GS activity by the method of Smith et al.; GPT was assayed by commercial kit. Protein was assayed by the method of Lowry et al. Enzyme activities between mean -2SD and mean +2SD of controls were considered to be the normal range. GS activity in control subjects was 28.22 +/- 7.13 (mean +/- SD) nmol glutamine formed/mg protein/hr. Fifteen of 40 cases showed increased enzyme activity, including DMD and FCMD, the acute phase of polymyositis, and periodic paralysis. GPT activity in controls was 16.56 +/- 4.05 IU/mg protein. Sixteen of 40 patients showed increased enzyme activity: FCMD, FSH, MyD, inflammatory and endocrinological myopathy, and ALS. On the other hand, mitochondrial myopathy showed significantly decreased activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Studies on enzyme activities relating to amino acid mobilization in biopsied muscles]. 198 Jun 44

Patients with Duchenne progressive muscular dystrophy (DMD) and those with spinal progressive muscular atrophy (SPMA) were compared on the basis of memory and IQ. The DMD group was inferior to the SPMA group in memory tests and Full Scale IQ. The DMD group showed poorer scores, despite the fact that functional disabilities and social environments were similar for the two groups. Results thus support the current view that lower IQ is one of the primary manifestations of DMD.
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PMID:Downward shift in IQ in persons with Duchenne muscular dystrophy compared to those with spinal muscular atrophy. 270 22

Some conditions causing neurogenic or myogenic myopathy are reviewed and illustrated by cases of 1) perinatal cervical cord injury; 2) various types of progressive spinal muscular atrophy and 3) congenital muscular dystrophy, Duchenne-like type of muscular dystrophy, limb-girdle type of muscular dystrophy. All the cases of muscular dystrophy described here occurred in girls.
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PMID:Characteristic clinical findings in some neurogenic myopathies and in some myogenic myopathies causing muscular weakness, hypotonia and atrophy in infancy and early childhood. 517 29

The authors begin this general review with the pseudohypertrophies due either to an underlying extramuscular process, or to a focal lesion within the muscle, or else to miscellaneous interstitial infiltrates such as those found in cysticercosis, sarcoidosis, amylosis. True hypertrophy is most often observed in the course of muscular dystrophy. It is an usual finding in myopathies, and the prominent symptom of Thomsen disease ; it is the only symptom of hypertrophia musculorum vera and masseters hypertrophy ; it is associated with a peculiar deficit in the "Hereditary Distal Myopathy with Onset in Infancy"; it is a classical symptom of some endocrine myopathies (hypothyroidism and acromegaly). Paradoxically, true hypertrophy may, though very rarely, be encountered in the course of nervous system diseases, most often of the neuritic type : sciatica, hypertrophic neuritis, progressive spinal muscular atrophy. The mechanism of this very unusual muscular reaction remains unknown.
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PMID:[Muscular hypertrophy in clinical neurology (author's transl)]. 722 56

Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy.
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PMID:ABNORMAL MYOGLOBIN ULTRAVIOLET SPECTRUM IN DUCHENNE TYPE OF PROGRESSIVE MUSCULAR DYSTROPHY. 1406 46

Emery Dreifuss muscular dystrophy (EDMD) is an uncommon hereditary myopathy characterized by 3 symptoms: slow progressive muscular atrophy, muscular contractures and cardiac disease which affect prognosis. We report a 22 year-old patient with EDMD which shows the typical features of the associated dilated cardiomyopathy, ventricular arrhythmia, atrio-ventricular block, atrial standstill then atrial paralysis.
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PMID:[Cardiac involvement in Emery-Dreifuss muscular dystrophy: a case report]. 1704 10

The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of technological assistential equipment. From a population of 48,499 inhabitants, 338 individuals were screened and 123 (0.34%) were clinically, genetically and functionally assessed by a multidisciplinary team of specialists. Genetic factors were responsible for 58.5% of the disabilities, with some clusters of prevalent diseases being found within the sampled communities, namely progressive spinal muscular atrophy, spinocerebellar ataxia, muscular dystrophy and Spoan syndrome. The socioeconomic profile and the demand for rehabilitation services and technological assistance highlight the need to introduce and implement specific public health policies in these communities.
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PMID:[The causes of physical disability in municipalities of the northeast of Brazil and an estimate of costs of specialized services]. 2486 32

Charles-Prosper Ollivier d'Angers coined the term "syringomyelia" in 1827 to describe the presence of a cavity in the spinal cord, which he considered pathological in all cases. In 1882 in Germany, Otto von Kahler and Friedrich Schultze defined the clinical syndrome, which associated Duchenne-Aran muscular dystrophy of a limb with sensory dissociation. They explained the syndrome by the presence of an abnormal cavity, distinct from that found in the spinal cord of healthy adults. Although Guillaume Duchenne de Boulogne and Jean-Martin Charcot had observed cases in France, both failed to identify syringomyelia, whereas a family physician in Brittany, Augustin Morvan, described the clinical symptomatology using the term "analgesic whitlow" in 1883. Based on several dozen observations that they collated in their remarkable theses,Anna Bumler in Zurich in 1887 and Isidore Bruhl in Paris in 1890 established the complete clinical picture of syringomyelia, covering anatomic functional and pathological aspects. Whereas Charcot isolated pathologies by correlating clinical signs with anatomo-pathological lesions, the isolation of syringomyelia initially involved an anatomo-pathological concept before the semiology was defined. In addition, this work would later enhance physiological understanding of sensory spinal pathways.
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PMID:History of the Emergence and Recognition of Syringomyelia in the 19th Century. 2659 Oct 71