Myofibrillar Myopathy Overview

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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?
Richard J. Barohn
Advanced in Myofibrillar Myopathy
Dr. Richard J. Barohn
Neurology
Advanced in Myofibrillar Myopathy
Dr. Richard J. Barohn
Neurology

The Curators Of The University Of Missouri

1020 Hitt St, Neurology Clinic Univ Of Mo, 
Columbia, MO 
 (121.5 mi)
573-882-3133
Languages Spoken:
English
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Accepting New Patients

Richard Barohn is a Neurologist in Columbia, Missouri. Dr. Barohn and is rated as an Advanced provider by MediFind in the treatment of Myofibrillar Myopathy. His top areas of expertise are Inclusion Body Myositis, Myasthenia Gravis, Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Thymectomy. Dr. Barohn is currently accepting new patients.

Advanced in Myofibrillar Myopathy
Dr. Jessica M. Snyder
Family Medicine
Advanced in Myofibrillar Myopathy
Dr. Jessica M. Snyder
Family Medicine

Saint Luke's Hospital Of Trenton

400 N Fullerton St, Saint Lukes Mercer County Clinic, 
Princeton, MO 
 (104.0 mi)
660-748-4040
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Jessica Snyder is a Family Medicine provider in Princeton, Missouri. Dr. Snyder and is rated as an Advanced provider by MediFind in the treatment of Myofibrillar Myopathy. Her top areas of expertise are Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, Tubular Aggregate Myopathy, and Centronuclear Myopathy. Dr. Snyder is currently accepting new patients.

 
 
 
 
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Advanced in Myofibrillar Myopathy
Dr. Robert C. Bucelli
Neurology
Advanced in Myofibrillar Myopathy
Dr. Robert C. Bucelli
Neurology

Washington University

4455 Duncan Ave, 
Saint Louis, MO 
 (234.5 mi)
314-362-1408
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Robert Bucelli is a Neurologist in Saint Louis, Missouri. Dr. Bucelli and is rated as an Advanced provider by MediFind in the treatment of Myofibrillar Myopathy. His top areas of expertise are Encephalitis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Creutzfeldt-Jakob Disease, Gastrostomy, and Thyroidectomy. Dr. Bucelli is currently accepting new patients.

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