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Ahmad Cannot Run, History Taking Of A Child, Gowers Sign, Helpful in -…
Ahmad Cannot Run
Neurological Examination of the lower limb
Inspection
Tone
Power
Reflexes
Sensory Assessment
Anatomy of the Foot
Duchenne Muscular Dystrophy
what it is
an X-linked recessive disorder that leads to progressive muscle degeneration and weakness, and death
what causes it
Loss of Dystrophin
What is Dystrophin
Dystrophin is a large protein that spans the cell membrane of muscle fibers (sarcolemma), connecting the intracellular cytoskeleton to the extracellular matrix.
Functions of Dystrophin
Anchoring the cytoskeleton to the extracellular matrix
Helps to distribute the force generated during muscle contraction and protect the muscle from damage.
Involved in signaling pathways that regulate muscle growth, repair, and metabolism.
Pathophysiology of DMD:
Increased muscle membrane permeability
Inflammation
Fibrosis
as a result of
Management & Treatment
Treatment
Gene Therapy
what it is
replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your body's ability to fight disease.
Limitations
Immune reactions
Short lived
Tumor formation
Cost
Time and trials
Multigene disorders
Management
Cardiac Issues: ACE inhibitors, beta blockers
Contractures: physiotherapy, surgery
Gait: orthosis, standing frames, wheelchair
Respiratory impairment: cough assist device, assisted ventilation
Muscle atrophy: gentle exercise
Spinal curvatures: surgery, physiotherapy
Corticosteroids: improve muscle strength and function, slows down the course of DMD
Social & Psychological implications
Cognitive deficits
Anxiety & Depression
Isolation
Physical limitations
could be reduced with
Investigations for diagnosis of muscle problems
Physical Examination
Look
look for
Abnormal Gait
gait is
is the style of walking rather than the walking process itself
Stance phase : 60%
Swing phase: 40%
Abnormal Curvature of the back
pseudohypertrophy of the calves
Feel
can also be felt
Move
Measurement Of strength
The Oxford Scale
Primary Investigations
Secondary Investigations
Muscle Biopsy
Other Investigations
such as
Nerve conduction studies
Electromyography
When to Order EMG
Tingling
Numbness
Muscle weakness
Muscle pain or cramping
Certain types of limb pain
MRI scan
CT scan
Pathology of DMD
Different sizes
Spaces with condensed nuclei
Inflammatory infiltrate
genetic testing such as
PCR for the dystrophin gene mutation.
testing for
such as
Blood Test for Serum creatine kinase
Cardiac Assessment Periodically
increased levels of CK due to
Genetic counseling
the four steps
1.Reaching at a diagnosis
2.Risk of recurrence
3.Communication
With proper explanation skills
4.Discussion of options
imp in genetic disorders like
History Taking
Of A Child
SOCRATES
Site.
Character.
Onset.
Radiation.
Associated Symptoms
Time Course.
Exacerbate/ Relieving factors
Severity.
ICE
Systems Review
Medical History
Social History
Family History
Gowers Sign
Helpful in