Myofibrillar Myopathy
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Learn About Myofibrillar Myopathy

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
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.

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 24 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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Advanced in Myofibrillar Myopathy
Advanced in Myofibrillar Myopathy
Referral may be required

Kennedy Krieger Institute

1741 Ashland Avenue, Room 847, Room 847, 
Baltimore, MD 
Languages Spoken:
English

Dr. Leung obtained her undergraduate degree in biochemical sciences from Harvard University. While attending medical school at Duke University, she completed a year-long research fellowship studying genetic markers of late-onset Alzheimer’s disease at the National Institute on Aging as part of the NIH Clinical Research Training Program. She completed her neurology residency and clinical neurophysiology fellowship at Stanford University Medical Center, and is currently a Ph.D. candidate in the graduate training program in clinical investigation at the Johns Hopkins Bloomberg School of Public Health. Dr. Leung joined the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute as a translational research fellow in 2010 and was appointed to the faculty in 2014. Her clinic specializes in electromyography and the diagnosis and treatment of hereditary muscle diseases. Dr. Leung’s research focuses on the development of imaging biomarkers and outcome measures for muscle diseases. She is the principal investigator for a longitudinal cohort study of whole-body MRI in facioscapulohumeral muscular dystrophy. Dr. Leung is also a site principal investigator for the Ionis-DMPKRx trial, a phase Ib/IIa clinical trial of a novel RNA-based therapy for myotonic muscular dystrophy. Dr. Leung is rated as an Advanced provider by MediFind in the treatment of Myofibrillar Myopathy. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Facioscapulohumeral Muscular Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, and Dysferlinopathy. Dr. Leung is board certified in American Board Of Psychiatry And Neurology.

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