Clinical Manifestations
Exaggerated inward curve of the lower portion of the spine
Lumbar Lordosis
Extensive weakness of the heart muscle layer and scarring of the muscle tissue
Cardiomyopathy
Blood tests are used to measure what enzyme that results from muscle damage since it is elevated in the blood between 10 to 20 times with it typically peaking at the age of 2 in this disorder
Creatine Kinase (CK)
Assistive technology that is often introduced during late childhood or early teens to support independent mobility in lower muscles weaken
Wheelchair
What type of inheritance pattern is responsible for this disease
X-Link Recessive
Limbs closest to the trunk affected first, may manifest in ways such as trouble walking, clumsiness, & falling often
Muscle Weakness
A protein normally found in muscle cells is missing or doesn't work properly in this disorder, which leads to progressive muscle breakdown
Dystrophin
Test used to determine the presence or absence of muscular dystrophin if a person is suspected of having this disorder
Muscle Biopsy
The type of drug that are often used to reduce inflammation that is commonly prescribed to slow the progression of muscle weakness in patients with this condition
Corticosteroids
This historical scientist first described the disorder in the 1860s after observing it in young boys
Guillaume Duchenne
Abnormal muscle tissue that can cause noticeably large calf muscles
Pseudohypertrophy
Weakened respiratory muscles increase risk of this complication, characterized by inflamed air sacs
Pneumonia
Ultrasound test that uses sound waves to monitor heart structure/function and can be used to detect early signs of cardiomyopathy in people
Echocardiography/Echocardiogram
Therapy that focuses on improving mobility and preventing contractures through stretches and exercise
Physical Therapy
Females possessing the gene mutation linked to this disease potentially show symptoms in the function of what organ despite them being a carrier
Heart Function
As muscles weaken, the spine may begin to curve sideways in a condition known as....
Scoliosis
A condition characterized by difficulty swallowing as a result of the weaking of muscles
Dysphagia
Molecular technique in the form of genetic blood tests used to detect the deletion or duplication of specific genes or DNA regions that are responsible for causing disease
Multiplex Ligation-Dependent Probe Amplification (MPLA)
Treatment that involves a surgical procedure to help maintain upright posture and reduce scoliosis in the late stages of this disease
Spinal Fusion Surgery
What two neurodevelopmental disorders are more common in children with this disease
ADHD and Autism Spectrum Disorder
The first major motor milestone delay noticed in toddlers with this disorder
Delayed Walking
This disorder impacts the nervous system that results in symptoms characterized by things including low IQ, language problems, and memory issues all of which that fall under what category
Cognitive Impairment
People with a known family history and/or genetic mutation of this disease can use this type of testing during pregnancy
Prenatal Testing
Genetic based treatment that is designed to bypass/skip faulty sections of a gene that are mutated producing a shortened but functional version of a protein
Exon-Skipping Therapy
What is the average life expectancy of a person with this disorder through modern care and treatment
≈30 years