SR0583LRB099 12545 GRL 36017 r

1
SENATE RESOLUTION

 
2    WHEREAS, X-Linked Myotubular Myopathy is a genetic
3neuromuscular disorder characterized by muscle weakness; most
4affected individuals have a severe form of the disease that can
5cause diminished muscle tone, feeding difficulties, and severe
6breathing complications; and
 
7    WHEREAS, X-Linked Myotubular Myopathy symptoms are often
8present at birth and almost exclusively in males; it is
9estimated that 1 out of every 50,000 male babies born will have
10X-Linked Myotubular Myopathy; and
 
11    WHEREAS, Respiratory distress may cause affected infants
12to require constant and prolonged mechanical ventilation,
13which carries many risks such as recurrent infection,
14inadequate shallow breathing, and lack of oxygen in the blood;
15individuals with X-Linked Myotubular Myopathy usually survive
16only into early childhood; and
 
17    WHEREAS, Poor muscle development can cause delays in motor
18skill milestones; most individuals are unable to walk and
19require assistance for normal daily activities; for affected
20individuals who live into adulthood, additional symptoms
21include bone fractures, malformation of the hip, and scoliosis;
22and
 

 

 

SR0583- 2 -LRB099 12545 GRL 36017 r

1    WHEREAS, X-Linked Myotubular Myopathy is caused by
2mutations in the MTM1 gene; molecular genetic testing can
3detect a mutation in 60 to 98 percent of affected individuals;
4and
 
5    WHEREAS, Treatment of X-Linked Myotubular Myopathy is
6focused on the specific symptoms experienced by each affected
7individual and usually requires intensive medical
8intervention; there are ongoing studies to identify more
9effective treatment therapies; therefore, be it
 
10    RESOLVED, BY THE SENATE OF THE NINETY-NINTH GENERAL
11ASSEMBLY OF THE STATE OF ILLINOIS, that we designate June 17,
122015 as X-Linked Myotubular Myopathy Awareness Day in the State
13of Illinois in order to bring attention to those affected by
14this disorder and the efforts of many to identify better
15treatment for those individuals.