Validity of a Neurological Scoring System for Canine X-Linked Myotubular Myopathy.

ABSTRACT: A simple clinical neurological test was developed to evaluate response to gene therapy in a preclinical canine model of X-linked myotubular myopathy (XLMTM). This devastating congenital myopathy is caused by mutation in the myotubularin (MTM1) gene. Clinical signs include muscle weakness, early respiratory failure, and ventilator dependence. A spontaneously occurring canine model has a similar clinical picture and histological abnormalities on muscle biopsy compared with patients. We developed a neuromuscular assessment score, graded on a scale from 10 (normal) to 1 (unable to maintain sternal recumbency). We hypothesize that this neurological assessment score correlates with genotype and established measures of disease severity and is reliable when performed by an independent observer. At

SUBMITTER: Snyder JM 

PROVIDER: S-EPMC4574743 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature