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Learn About Dysferlinopathy

What is the definition of Dysferlinopathy?
The diseases in the group are: All dysferlinopathies are caused by pathogenic variations in the DYSF gene which result in a deficiency of the protein dysferlin (hence, the name), important for the efficient repair of muscle fibers. Inheritance is autosomal recessive.
What are the alternative names for Dysferlinopathy?
  • Dysferlinopathy
  • Dystrophinopathy
Who are the top Dysferlinopathy Local Doctors?
Family Medicine
Family Medicine

Geisinger Clinic

114 Lt Michael Cleary Dr, 
Dallas, PA 
 (0.8 mi)
Languages Spoken:
English

Matthew Joseph is a Family Medicine provider in Dallas, Pennsylvania. Dr. Joseph and is rated as an Experienced provider by MediFind in the treatment of Dysferlinopathy. His top areas of expertise are Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Hypothyroidism, Thrombectomy, and Angioplasty.

Geisinger Clinic

114 Lt Michael Cleary Dr, 
Dallas, PA 
 (0.8 mi)
Languages Spoken:
English

Richard Huntington is a Family Medicine provider in Dallas, Pennsylvania. Dr. Huntington and is rated as an Experienced provider by MediFind in the treatment of Dysferlinopathy. His top areas of expertise are Maturity Onset Diabetes of the Young, Type 2 Diabetes (T2D), Hypertensive Heart Disease, and Stasis Dermatitis and Ulcers.

 
 
 
 
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Commonwealth Physician Network LLC

4 E Main St, 
Nanticoke, PA 
 (9.3 mi)
Languages Spoken:
English
Offers Telehealth

Denise Klynowsky-Farrell is a Family Medicine provider in Nanticoke, Pennsylvania. Dr. Klynowsky-Farrell and is rated as an Experienced provider by MediFind in the treatment of Dysferlinopathy. Her top areas of expertise are Familial Hypopituitarism, End-Stage Renal Disease (ESRD), High Cholesterol, Obesity in Children, and Endoscopy.

What are the latest Dysferlinopathy Clinical Trials?
Feasibility, Validation and Application of Digital Tools for the Follow-up of Neuromuscular Patient

Summary: The low prevalence of rare diseases hinders the design of clinical studies with sufficient statistical power to demonstrate the efficacy of new drugs. This can only be achieved by setting up international multicentre studies, which is challenging due to a lack of objective, universal outcome measures that generate high-quality, reproducible data. One of the hurdles in attaining universal outcome m...

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