Joshua Frase Foundation - Links and resources for clinicians

Standards of Care:

RECENSUS Study: A Multicenter, Retrospective Medical Record Review of X-Linked MTM
CM Standards of Care
BTS Standards of Care
The Care for Congenital Myopathy, A Guide for Families
The Care for Congenital Myopathy, A Guide for Families, Spanish
A Natural History Study of X-linked Myotubular Myopathy 

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
Common Data Elements for Muscle Biopsy Reporting 
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy

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
Extubation - Efficacy of Mechanical Insufflation -Exsufflation in Extubating Unweanable Subjects Noninvasive Ventilatory Support (NVS) ~ Translated in 5 Languages 
Orthopedic Complications of Myotubular Myopathy
Medical complications in long-term survivors with X-linked Myotubular Myopathy
Airway clearance techniques in neuromuscular disorders: A state of the art review
Understanding Biphasic Cuirass Ventilation (BCV)
Anesthesia Guidelines  
Extubation of Patients with Neuromuscular Weakness: A New Management Paradigm

 

 Miscellaneous Articles

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