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muscular dystrophy

      Re: Re: muscular dystrophy

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Posted by CCF neuro MD on July 02, 1997 at 21:08:34:

In Reply to: Re: muscular dystrophy posted by Sue on June 24, 1997 at 15:43:05:

: : My husband is 32 y.o., adopted.  Recently found out his mother, paternal
  : aunt have been dx with m.d..  
  : 1.  Is there a screening for this disease,and if so, should he be
  :         screened?
  : 2.  What are the early symptoms of the disease?
  : Thank you,
  : Melanie
  Hi Melanie,
  I run a support group for muscular dystrophy, and you should know there are many
  differt forms of MD.  Some of them are dominantly inherited and some are recessively
  inherited.  I can only imagine that you are concerned about your husband and your
  children coming down with a form of MD.  If you can find out what form of MD she had
  you would be able to pinpoint specific information.  You can read more about MD diseases
  at: http://www.mda.org.au/
Dear Melanie:
I can sympathise with your concerns about your husband and children possibly having a muscular dystrophy, and agree with Sue's suggestions. The cardinal symptom of a muscular dystrophy is progressive or longstanding muscle weakness, often symmetrically affecting the proximal muscles of the limbs. Depending upon the specific type of dystrophy (there are several well-defined types and numerous other less common, less well-defined ones), the distribution of weakness may differ, and there may be additional symptoms. Dystrophies may be autosomal dominant (transmitted from affected parent to child), autosomal recessive (transmitted from both parent, each of whom is a carrier or heterozygote, although neither may express the disease), or sex-linked recessive (transmitted to male offspring from carrier or heterozygous mother, who is usually unaffected). The common dystrophies in adults are myotonic dystrophy, facioscapulohumeral dystrophy, limb girdle dystrophy (various types), and Becker's dystrophy.
The easiest way for your husband and you to approach this problem is to see a neurologist specializing in neuromuscular diseases. You should try to get all the available medical records of your husband's affected relatives, and also their photographs/family photographs, before you see the neurologist. These records are not absolutely necessary for screening your husband, but can be immensely useful, if available. Various non-specific tests (CK level in blood, EMG which is an electrical test), and more specific tests (genetic testing on blood/muscle) may be ordered by the neurologist, if felt necessary.
If you live near Cleveland, I suggest that your husband see Dr. Robert Shields, Dr. Kerry Levin or Dr Hiroshi Mitsumoto at the Cleveland Clinic. The are all neuromucular specialists with a nationwide reputation. You may call (800)223-2273 or (216)444-2200 and ask for neurology appointments to schedule an appointment.
This information is provided for general medical educational purposes only. Please consult your physician for diagnostic and treatment options of your specific medical condition.

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