Joshua Frase Foundation - Links and resources for clinicians

Standards of Care:

CM Standards of Care
BTS Standards of Care
CMD Standards of Care
The Care for Congenital Myopathy, A Guide for Families
The Care for Congenital Myopathy, A Guide for Families, Spanish

Diagnosing

Importance of Early Diagnosis
Clinical Gene Card
Genetic Testing Info for U of C
Importance of Genetic Testing
Diagnosing Muscle Disorders
Under Diagnosis of XLMTM
X-Linked Myotubular and Centronuclear Myopathies
Importance of genetic testing in CNM 

Pulmonology

Pulmonary Function Testing in Neuromuscular Disorders
The Pathophysiology of Respiratory Impairment in Pediatric Neuromuscular Disease
Equipment Options for Breathing Issues
Respiratory Care for Scoliosis
Perspectives on Respiratory Management
Assessment of Sleep-Disordered Breathing in Pediatric Neuromuscular Diseases

Miscellaneous Complications

Orthopedic Complications of Myotubular Myopathy
Medical complications in long-term survivors with X-linked Myotubular Myopathy
Anesthesia Guidelines

 

Miscellaneous Articles

Tissue Triage and Freezing for Models of Skeletal Muscle 
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons