Question

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Imagine that you are part of a research team that specializes in diagnosing disorders associated with malfunctioning cellular structures. Medical doctors consult your group to help diagnose particularly difficult cases. You have been presented with the following data: Patient History: o Seven year-old boy o Fatigue o Muscle weakness o Low endurance o Loss of coordination o Progressive difficulty walkin Physical Examination o Muscle loss & deformity o Awkward gait o Difficulty breathing Laboratory Results o Cells have abnormal shape o Cell division is abnormal o Impaired intracellular movement of material. Explain which structures may be involved. Use the patient history data to support your conclusions.

Answer 1

Here the 7 years boy is suffering from muscular dystrophy or better to say Duchenne muscular dystrophy.

This occurs due to the absence of dystrophin in muscle cells which change the shape of the cell and sometimes these cells are replaced by fat and connective tissue that causes death of the the cells and also pain in the site of damage of the muscle cells. This causes the muscle to get weak and fatigue.

Small amounts of dystrophin are also made in nerve cells (neurons) in specific parts of the brain, including the hippocampus which is the part of the brain involved in learning and memory, as well as emotions so due to this loss of coordination occurs.

Low endurance is seen in this boy because this disease effect on heart muscle cells and causes enlargement of heart and inhibits the pumping of blood efficiently so oxygenated blood is not distributed properly.

Causes: This occurs due to the mutation in DMD gene which helps to make the protein dystropin in the muscle cells of the heart and skeletal muscle that helps to stabilize the muscle fibers of skeletal muscle and heart.

Diagnosis: 1.This can be tested by molecular genetic testing where blood cells are used to see whether there is a mutation in DMD gene which helps to make the protein dystropin in the muscle cells of the heart and skeletal muscle that helps to stabilize the muscle fibers of skeletal muscle and heart.

2. Blood tests can be used to check for increased levels of certain special proteins or muscle enzymes such as creatine phosphokinase (CPK or CK), aspartate transaminase and alanine transaminase in the blood which can leak from damaged muscles.