SI-170, 180, 283, 301, 302: (DMD) Muscular Dystrophy
• Cell line states:
o SI-170: affected male (Becker type)
o SI-180, 283, 302: carrier (Duchenne type)
o SI-301: affected male (Duchenne type)
• Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment
• Defects in DMD are the cause of Becker muscular dystrophy which resembles DMD in hereditary and clinical features but is later in onset and more benign
• Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B; also known as X-linked dilated cardiomyopathy. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.