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)

Pompe disease is a severe form of muscular dystrophy due to glycogen accumulation in all tissues, especially striated muscle. Disease severity is directly related to the deficiency of acid alpha-glucosidase (GAA), which degrades glycogen in the lysosome. Respiratory dysfunction is a hallmark of the disease, muscle weakness has been viewed as the underlying cause, and the possibility of an associated neural contribution has not been evaluated previously. Therefore, we examined behavioral and neurophysiological aspects of breathing in 2 animal models of Pompe disease--the Gaa(-/-) mouse and a transgenic line (MTP) expressing GAA only in skeletal muscle, as well as a detailed analysis of the CNS in a Pompe disease patient. Glycogen content was elevated in the Gaa(-/-) mouse cervical spinal cord. Retrograde labeling of phrenic motoneurons showed significantly greater soma size in Gaa(-/-) mice vs. isogenic controls, and glycogen was observed in Gaa(-/-) phrenic motoneurons. Ventilation, assessed via plethysmography, was attenuated during quiet breathing and hypercapnic challenge in Gaa(-/-) mice (6 to >21 months of age) vs. controls. We confirmed that MTP mice had normal diaphragmatic contractile properties; however, MTP mice had ventilation similar to the Gaa(-/-) mice during quiet breathing. Neurophysiological recordings indicated that efferent phrenic nerve inspiratory burst amplitudes were substantially lower in Gaa(-/-) and MTP mice vs. controls. In human samples, we demonstrated similar pathology in the cervical spinal cord and greater accumulation of glycogen in spinal cord compared with brain. We conclude that neural output to the diaphragm is deficient in Gaa(-/-) mice, and therapies targeting muscle alone may be ineffective in Pompe disease.
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PMID:Neural deficits contribute to respiratory insufficiency in Pompe disease. 1947 95

This case study discusses the question of whether or not the information that a female foetus is a carrier of Duchene Muscular Dystrophy (DMD) should be conveyed to expecting parents. As only a female foetus can be a carrier of DMD, conveying the information of its carrier status would effectively disclose the sex of the foetus, which is against the provisions of the Pre-conception and Pre-natal Diagnostic Techniques Act (PC-PNDT Act), 1994. The Act states that the gender of the foetus may not be conveyed except in those cases where the foetus (itself) has genetic or metabolic disorders, chromosomal abnormalities or congenital malformations including sex-linked disorders. Further, while the Medical Termination of Pregnancy Act (MTP Act) permits termination of foetuses with certain abnormalities or diseases, it does not permit termination of a foetus with carrier status of a disease. We suggest that suitable modifications may be made to the PC-PNDT Act as also to the MTP Act.
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PMID:Conveying the status of a female DMD carrier foetus - A dilemma. 3121 15