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
Samia Martin
Elite in Myofibrillar Myopathy
Samia Martin
Evry, FR 

Samia Martin practices practicing medicine in Evry, France. Ms. Martin is rated as an Elite expert by MediFind in the treatment of Myofibrillar Myopathy. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Myofibrillar Myopathy, Crigler-Najjar Syndrome, Rotor Syndrome, and Congenital Fiber-Type Disproportion.

Elite in Myofibrillar Myopathy
Andreas Brodehl
Elite in Myofibrillar Myopathy
Andreas Brodehl
Bochum, NW, DE 

Andreas Brodehl practices practicing medicine in Bochum, 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.

 
 
 
 
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Elite in Myofibrillar Myopathy
Lilli Winter
Elite in Myofibrillar Myopathy
Lilli Winter
Vienna, AT 

Lilli Winter practices practicing medicine in Vienna, Austria. Ms. Winter is rated as an Elite expert by MediFind in the treatment of Myofibrillar Myopathy. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Myofibrillar Myopathy, Dowling-Meara Epidermolysis Bullosa Simplex, Dominant Dystrophic Epidermolysis Bullosa, and Epidermolysis Bullosa with Pyloric Atresia.

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