Doctor insights on:
Hereditary Muscle Diseases
It is a body tissue that has the ability to contract. It shortens and generates force. It relaxes and returns to its original length. Muscles move joints, stabilize the body, move air and food through the organs, act as valves for bladder, bowel and other organs. They control movement of the eyes. They help us express ourselves by changing the shape of our ...Read more
What other diseases/conditions are associated with "COX negative fibers on muscle biopsy" besides mitochondrial diseases?
Complex issues. Best: look them up yourself. E.g. https://www.google.com/search?q=muscle+biopsy+COX+negative+fibers, https://scholar.google.com/scholar?q=muscle+biopsy+COX+negative+fibers & http://emedicine.medscape.com/article/1847877-overview would be good places to begin. ...Read more
Can autoimmune disorders cause premature wrinkles / thinner skin? What kinds of auto immune diseases?
Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read moreSee 1 more doctor answer
DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist. ...Read moreSee 2 more doctor answers
Amount of Dystrophin: The two conditions differ in their severity, age of onset, and rate of progression. Mutations in the dmd gene cause duchenne and becker forms of muscular dystrophy (dmd and bmd, respectively). Mutations that lead to an abnormal version of dystrophin that retains some function usually cause bmd, while mutations that prevent the production of any functional dystrophin causes dmd. ...Read more
Yes: Muscular dystrophies are a subgroup of myopathies characterized by muscle degeneration and weakness. ...Read more
Duchenne: It is an x linked (from the mother) defective gene. Therefore it effects only boys. Not aware of an ethnic predilection. ...Read more
No: no, mitochondrial diseases related to certain internal cellular issues and their discombobulation's. Metabolic diseases include for the most part diabetes, obesity, Dysmetabolic syndrome, which are a separate type of disease process than internal internal cellular constituents such as mitochondria ...Read more
Likley: A combination of both in which genetics predispose you but a trigger or exposure which your body encounters turns on the autoantibodies. ...Read more
Polygenic problem: The information that codes for proper heart formation is shared by many genes on chromosomes. Genetic studies show linkage, where a person with a form of chd has a 4% chance of having a first degree relative with any form of chd as well as a 4% risk of having a child with a chd. A few rare syndromes have higher genetic risk (dominant = 50%) that sometimes have chd as part of the syndrome. ...Read more
What are the signs and symptoms of pathogenic diseases, hereditary diseases, deficiency diseases and physiological diseases?
Site protocol: You get the most from this site when you provide background information on a medical problem and ask a related but clear question. We are not a shortcut for homework assignments, or a library reference section. For that you need to consult your local library or text books. ...Read moreSee 1 more doctor answer
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