|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal recessive inheritance||-|
|Difficulty climbing stairs||-|
|Elevated serum creatine phosphokinase||-|
|EMG: myopathic abnormalities||-|
|Increased connective tissue||-|
|Increased variability in muscle fiber diameter||-|
|Muscle fiber splitting||-|
|Proximal muscle weakness||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
New Directions in Biology and Disease of Skeletal Muscle
Sunday, June 29, 2014 -
Wednesday, July 2, 2014
Location: Chicago, IL
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
Contact: Dr. John D. Porter, 301-496-5739,email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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I wanted to know if this type is always recessive, or can it also be dominant in some cases? And how common or rare is this type? See answer