Case study
By Jaden usher
My case study is on a 19 year old non-ambulatory male with pneumonia.
“Duchenne muscular dystrophy" refers to a severe genetic disorder where muscles
progressively weaken and degenerate, primarily a ecting boys, and caused by a de ciency in
the protein dystrophin. "Duchenne" is the surname of the doctor, while "muscular dystrophy"
refers to the disease category where muscles deteriorate over time.
https://www.mda.org/disease/duchenne-muscular-dystrophy
The ordinary microscopic acclaimed in the muscle tissue of someone with Duchenne muscular
dystrophy is ample adipose cells with residual islets of muscle bers . Duchenne muscular
dystrophy is a genetic disorder characterized by progressive muscle feebleness and
degeneration . It due to absence dystrophin that is a amino acid that helps to keep muscle
cells intact .Symptoms are seen in early childhood between three to ve years. Duchenne
a ects boys mostly but rarely in girls. Symptoms may include, muscle weakness which rst
a ects pelvic area, thighs muscle of the hips and shoulders. It also a ects respiratory muscles
and heart.
https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd In
Duchenne Muscular Dystrophy (DMD)
The muscles most severely a ected are the proximal muscles located near the trunk, including
the muscles of the upper legs, pelvic area, upper arms, and shoulders, leading to weakness in
activities like standing up from a sitting position or climbing stairs; as the disease progresses, it
can also signi cantly impact the respiratory muscles, causing breathing di culties.
https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy
If James' calves appear enlarged, it could be a condition called "pseudohypertrophy," which is
most commonly associated with Duchenne Muscular Dystrophy (DMD) where the muscles
appear larger than normal due to an accumulation of fat and connective tissue, not actual
muscle growth, resulting in weakness despite the enlarged appearance; essentially, it's a "false
enlargement" of the muscle.
https://www.mda.org/disease/duchenne-muscular-dystrophy/signs-and-symptoms
Creatine kinase (CK) is an enzyme primarily found in muscle tissue, including the heart, and
when elevated in blood, it typically indicates muscle damage, meaning James's elevated CK
level likely points to a recent injury or strain to his muscles. Elevated CK levels may indicate
skeletal muscle, heart or brain damage or degeneration — either chronic (long-term) or acute
(short-term). Other names for a creatine kinase test include: CK total.
https://my.clevelandclinic.org/health/diagnostics/22692-creatine-kinase-ck#:~:text=A creatine
kinase (CK) test measures the amount of creatine,CK total.
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In 1879, neurologist Sir William Richard Gowers described the most essential Gowers as the
characteristic patterns complied with his patients with Duchenne muscular dystrophy wherein
they 'climb up' their thighs with the aid of their hands to conquer the limitation of their pelvic
and proximal lower limb muscular system.
https://www.ncbi.nlm.nih.gov/books/NBK540973/#:~:text=In 1879, neurologist Sir William,and
proximal lower limb muscles.
The consensus seems to be that deprived portability and spreading muscle feebleness leads to
alterations in trunk and in the end a progressive failing scoliosis. In DMD patients the
progression of scoliosis is rapid with an increase in angulation of between 16° and 24° per year,
which often occurs fastest during the adolescent growth spurt. The shape of a scoliosis in
DMD di ers to that seen in adolescent idiopathic scoliosis. The apex develops at the
thoracolumbar junction of the backbone and progression entails the complete thoracic and
lumbar, guiding to advancement of pelvic obliquity . Patients with DMD additionally seem to
cultivate thoracolumbar kyphosis as resisted to the lordosis normally seen in idiopathic
scoliosis.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5067270/
Duchenne Muscular Dystrophy (DMD) is caused by a genetic mutation in the dystrophin gene,
located on the X chromosome, which leads to a de ciency in the production of the dystrophin
protein, a crucial component for protecting muscle bers from damage, ultimately resulting in
progressive muscle weakness and wasting, primarily a ecting boys due to the X-linked
recessive inheritance pattern; this means that a male only needs to inherit one copy of the
mutated gene on his single X chromosome to develop the disease, while females carrying one
mutated copy are usually carriers with no symptoms.
https://www.hopkinsmedicine.org/health/conditions-and-diseases/duchenne-muscular-
dystrophy#:~:text=Duchenne muscular dystrophy, or DMD,some of the a ected genes.
The average lifespan for an individual with Duchenne Muscular Dystrophy (DMD) is typically in
the late 20s or early 30s, with most deaths occurring due to complications related to heart
(cardiomyopathy) or respiratory (breathing) issues, often stemming from progressive muscle
weakness a ecting the muscles involved in breathing and circulation; this can include
respiratory failure and cardiac arrhythmias.
https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-
dmd#:~:text=People with Duchene muscular dystrophy,(breathing) or heart complications.
In 10 years, Duchenne Muscular Dystrophy (DMD) treatment could potentially involve
advanced gene therapy approaches using Cas9 technology to directly correct the genetic
mutation causing the disease, potentially leading to a more permanent and e ective treatment
compared to current options, which mainly focus on slowing disease progression with
medications like corticosteroids; this could include targeted delivery systems to ensure the
gene therapy reaches the a ected muscle tissues e ectively, potentially allowing for earlier
intervention and improved quality of life for patients with DMD.
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In early 2024, the FDA approved Duvyzat (givinostat), a non-steroidal drug, to treat children and
adolescents living with DMD. This drug changes gene expression in cells by altering its DNA.
The medicine has been displayed to slow the progression of DMD and boost transferability.
https://www.webmd.com/children/duchenne-muscular-dystrophy#:~:text=In early 2024, the
FDA,of DMD and increase mobility.
