Learn About X-Linked Dominant Scapuloperoneal Myopathy

What is the definition of X-Linked Dominant Scapuloperoneal Myopathy?
X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. Some cases of scapuloperoneal myopathy are caused by genetic changes in the FHL1 gene. These cases are inherited in an X-linked dominant manner.
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What are the alternative names for 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
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What are the latest X-Linked Dominant Scapuloperoneal Myopathy Clinical Trials?
Congenital Muscle Disease Patient and Proxy Reported Outcome Study

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...

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Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)

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...

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

What are the Latest Advances for X-Linked Dominant Scapuloperoneal Myopathy?
Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy.
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