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)

Report of an International Symposion (Febr. 15, 1975, Munich). Human growth hormone (HGH) acts on proliferation of cartilage, the basal process of growth, by the way of somatomedine and changes in protein metabolism. Growth can be enhanced in hypopituitary dwardism and with higher dosage in other forms of failure to thrive. HGH also seems to have a beneficial effect in patients with muscular dystrophy as shown in a preliminary report but not in thrombocytopenia. First observations on patients with osteogenesis imperfecta and on patients with non healing fractures of the long bones (pseudarthroses) have shown significant improvement. Of importance are the reports on stopping severe gastric hemorrhage in patients with stress ulcera.
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PMID:[Proceedings: The clinical effects of human growth hormone. Report on an international symposium of the German Kabi Corp. on February 15, 1975 in Munich]. 121 33

Familial occurrence of cerebral malformations with muscular dystrophy was described by Fukuyama as congenital cerebromuscular dystrophy. We have observed a new syndrome belonging to the same group in three siblings. These syndromes differ in the degree of CNS involvement and abnormalities in the eye. The main clinical characteristics of our cohort were dysmorphic face, hypotonia, areflexia, failure to thrive, corneal opacity, cataract, dysgenesis of the anterior chamber of the eye, and death within the 1st year of life. Hydrocephalus and agyria were verified by computed tomography. Neuropathologic examination demonstrated malformations of the CNS. The agyric hemispheres with polymicrogyria in several cortical segments and severe cortical disorganization in other segments represented the principal anomaly. Congenital muscular dystrophy was also found. The CNS anomalies demonstrated a long-lasting pathologic process extending to involve the eye and muscle, which is most likely an inborn error of metabolism with autosomal recessive inheritance.
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PMID:Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. 682 Mar 33

Rural Efforts to Assist Children at Home (REACH) is a service/demonstration and training project designed to provide specialized health care and case management services to medically dependent children in a 16-county area in central FLorida. REACH nurses, acting as Health Care Coordinators, provide instruction, consultation, coordination, and supervision of health care services in collaboration with tertiary care physicians and services at the University of Florida Health Center. Patients include infants, children, and adolescents with a wide variety of chronic illnesses including leukemia, muscular dystrophy, pulmonary disorders, failure to thrive, and seizure disorders. In addition to extensive work with families in the home, the REACH program incorporates a feedback system for its nurses, a progress-oriented record system, carefully designed agreements between tertiary care centers and community agencies, and an innovative training program for its nurses. REACH intends to serve about 1000 children during its 3-year demonstration phase. Success will be based on careful monitoring of costs, family functioning, and school attendance. If successful, the project will provide a model for the structured utilization of health and social services for families with medically dependent children.
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PMID:The REACH Project: an innovative health delivery model for medically dependent children. 1026 95

We report a patient with congenital muscular dystrophy (CMD), developmental brain defects, and peripheral neuropathy. Marked hypotonia and plagiocephaly were noted at birth. Failure to thrive, generalized muscle weakness and wasting, absent deep tendon reflexes, partial seizures, and secondary microcephaly developed. Brain MRI showed a large area of cortical dysplasia, a thin but complete corpus callosum, and diffuse ventriculomegaly. Nerve conduction velocities were slow and creatine kinase levels only mildly elevated. Muscle biopsy showed dystrophic features with normal merosin, sarcoglycan, and dystrophin immunostaining. The Japanese Fukuyama CMD founder mutation was not detected. This is the first report of a patient with merosin-positive CMD, cobblestone lissencephaly, and demyelinating peripheral neuropathy.
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PMID:Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. 1039 53

The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone, 11 to Pyridostigmine with either 3, 4 DAP or Ephedrine and five to Ephedrine alone. Twenty one children required acute or chronic respiratory support, with tracheostomy in 4 and nocturnal or emergency non-invasive ventilation in 9. Eight children had gastrostomy. Another 11 were underweight for height indicative of failure to thrive and required dietetic input. A high index of clinical suspicion, repeat EMG by an experienced electromyographer and, if necessary, a therapeutic trial of Pyridostigmine facilitates the diagnosis of CMS with subsequent molecular genetic confirmation. This guides rational therapy and multidisciplinary management, which may be crucial for survival, particularly in pedigrees where previous deaths have occurred in infancy.
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PMID:Congenital myasthenic syndromes in childhood: diagnostic and management challenges. 1870 67

LAMA2-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and results in an aggressive, congenital-onset muscular dystrophy characterized by severe hypotonia, lack of independent ambulation, and early mortality driven by respiratory complications and/or failure to thrive. Of the pathomechanisms of MDC1A, the earliest and most prominent is widespread and rampant fibrosis. Here, we will discuss some of the key drivers of fibrosis including TGF-beta and renin-angiotensin system signaling and consequences of these pathways including myofibroblast transdifferentiation and matrix remodeling. We will also highlight some of the differences in fibrogenesis in congenital muscular dystrophy (CMD) with that seen in Duchenne muscular dystrophy (DMD). Finally, we will connect the key signaling pathways in the pathogenesis of MDC1A to the current status of the therapeutic approaches that have been tested in the preclinical models of MDC1A to treat fibrosis.
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PMID:Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology. 3211 41