X-Linked Dominant Scapuloperoneal MyopathySymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Warsaw, Poland. Ms. Pilarczyk-Madej is rated as an Elite expert by MediFind in the treatment of X-Linked Dominant Scapuloperoneal Myopathy. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses X-Linked Dominant Scapuloperoneal Myopathy, Emery-Dreifuss Muscular Dystrophy, X-Linked Cardiac Valvular Dysplasia, and Limb-Girdle Muscular Dystrophy Type 1A.
St. Christopher's Pediatric Associates Neurology - E. Erie Avenue
Joseph Melvin is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of X-Linked Dominant Scapuloperoneal Myopathy. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), West Syndrome, and Seizures. Dr. Melvin is board certified in American Board Of Psychiatry And Neurology.
Levine Children's Hospital
Dukjin Im is a Pediatrics provider practicing medicine in Charlotte, North Carolina. Dr. Im is rated as an Experienced provider by MediFind in the treatment of X-Linked Dominant Scapuloperoneal Myopathy. His clinical expertise encompasses Cerebral Palsy, Spasticity, Spastic Diplegia Infantile Type, and Walker-Warburg Syndrome. Dr. Im is board certified in American Board Of Physical Medicine And Rehabilitation and American Board Of Physical Medicine And Rehabilitation, Pediatric Rehabilitation Medicine. Dr. Im is currently accepting new patients.
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