Myofibrillar Myopathy
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Myofibrillar Myopathy Overview

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What is the definition of Myofibrillar Myopathy?
Myofibrilar myopathy (MFM) is a neuromuscular disease characterized by slowly progressive muscle weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those further away from the trunk). Some affected individuals also experience muscle stiffness, aching, or cramps. Other symptoms that can be associated with MFM include pain and tingling in the limbs (peripheral neuropathy) or an enlarged and weakened heart (cardiomyopathy). Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the disease can appear anytime between infancy and late adulthood. MFM is caused by a genetic change (change) in any of several genes, including DES, CRYAB, MYOT, LDB3, FLNC, BAG3, FHL1, TTN, and DNAJB6. The signs and symptoms of MFM can vary depending on the genetic cause. For some people, the exact genetic cause may be unknown. The mode of inheritance of the disease depends on exactly which gene is changed. MFM can be diagnosed with a muscle biopsy or other studies of muscle function. The diagnosis can be confirmed with genetic testing.
What are the alternative names for Myofibrillar Myopathy?
  • Myofibrillar myopathy
  • Alpha Beta crystallinopathy (type)
  • Desmin related myopathy (former name)
  • Desmin storage myopathy (former name)
  • Desminopathy (type)
  • Filaminopathy (type)
  • Myotilinopathy (type)
  • Protein surplus myopathy (former name)
  • Zaspopathy (type)
Who are the top Myofibrillar Myopathy Local Doctors?
Elite in Myofibrillar Myopathy
Elite in Myofibrillar Myopathy
Referral may be required
Bad Oeynhausen, NW, DE 

Andreas Brodehl practices practicing medicine in Bad Oeynhausen, Germany. Mr. Brodehl is rated as an Elite expert by MediFind in the treatment of Myofibrillar Myopathy. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Restrictive Cardiomyopathy (RCM), Myofibrillar Myopathy, Cardiomyopathy, Dilated Cardiomyopathy (DCM), and Heart Transplant.

Advanced in Myofibrillar Myopathy
Dr. Orel M. Everett
Family Medicine
Advanced in Myofibrillar Myopathy
Dr. Orel M. Everett
Family Medicine

Spohn Hospital Corpus Christi - Shoreline

600 Elizabeth St., 
Corpus Christi, TX 
361-881-3000
Languages Spoken:
English, Spanish
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Accepting New Patients

Orel Everett is a primary care provider, practicing in Family Medicine in Corpus Christi, Texas. Dr. Everett is rated as an Advanced provider by MediFind in the treatment of Myofibrillar Myopathy. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Myofibrillar Myopathy, Inclusion Body Myopathy 2, Cytoplasmic Body Myopathy, and Wieacker Wolff Syndrome. Dr. Everett is board certified in American Board Of Family Medicine. Dr. Everett is currently accepting new patients.

 
 
 
 
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Distinguished in Myofibrillar Myopathy
Distinguished in Myofibrillar Myopathy
Referral may be required
Ruhr Un, 
Bad Oeynhausen, NW, DE 

Jan Gummert practices practicing medicine in Bad Oeynhausen, Germany. Gummert is rated as a Distinguished expert by MediFind in the treatment of Myofibrillar Myopathy. They are also highly rated in 23 other conditions, according to our data. Their clinical expertise encompasses Heart Failure, Myofibrillar Myopathy, Cardiomyopathy, Heart Transplant, and Heart Bypass Surgery.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center