Learn About X-Linked Dominant Scapuloperoneal Myopathy
- X-linked dominant scapuloperoneal myopathy
- SPM
- Scapuloperoneal myopathy, FHL1-related
- Scapuloperoneal myopathy, X-linked dominant
- X-linked SPMD
- X-linked scapuloperoneal muscular dystrophy
- X-linked scapuloperoneal syndrome
Agnieszka Pilarczyk-Madej practices in Warsaw, Poland. Ms. Pilarczyk-Madej is rated as an Elite expert by MediFind in the treatment of X-Linked Dominant Scapuloperoneal Myopathy. Her top areas of expertise are X-Linked Dominant Scapuloperoneal Myopathy, Emery-Dreifuss Muscular Dystrophy, X-Linked Cardiac Valvular Dysplasia, and Limb-Girdle Muscular Dystrophy Type 1A.
State University Of Iowa
Katherine Mathews is a Neurologist and a Pediatrics provider in Iowa City, Iowa. Dr. Mathews is rated as a Distinguished provider by MediFind in the treatment of X-Linked Dominant Scapuloperoneal Myopathy. Her top areas of expertise are Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, Dystrophinopathy, and Friedreich Ataxia. Dr. Mathews is currently accepting new patients.
Advocate Medical Group Primary Care
Sam Fatoorehchi is a primary care provider, practicing in Family Medicine in Chicago, Illinois. Dr. Fatoorehchi is rated as an Advanced provider by MediFind in the treatment of X-Linked Dominant Scapuloperoneal Myopathy. His top areas of expertise are Miyoshi Myopathy, Distal Myopathy 2, Oculopharyngeal Muscular Dystrophy, and Emery-Dreifuss Muscular Dystrophy.
Summary: Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes. Among them, disorders affecting skeletal and/or cardiac muscles are the most frequent clinical manifestations, with cardiac disease being a major cause of death. Remarkable progress has been made in the description of the clinical and genetic spectrum of these disea...
Summary: The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and bec...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center