PATIENT #5: ANDREW Ashton Crowe Rayvin Ewers Miranda McCormick

ANDREW’S CASE  Andrew, a 45 year-old single father of two, comes to you in confidence. He’s noticed that the muscles in his hands and feet have gotten progressively weaker lately, and from time to time, he sees these muscles twitch. He used to lift weights at the gym quite a bit, but he now has trouble lifting the bar. His daughter noticed that he seems to be tripping and stumbling quite often and commented that it took him quite a long time to get the key in the door the other day. Andrew claims that mentally he feels fine, but it’s almost like his muscles are slowly giving out on him. You don’t see any twitches going on right now, but you are having a hard time hearing him. He seems to be having trouble projecting his voice and his speech is slightly slurred at times

SIGNS OF DISEASE  Hands and feet muscles are getting weaker and sometimes twitch  Used to work out, but now he has trouble lifting the bar  Has been tripping and stumbling  Had trouble putting the key in the door  Muscles are slowly giving out on him  Trouble projecting his voice  Heard slightly slurring his words

SYMPTOMS  Weakening of hand and feet muscles  Muscle twitching  Trouble lifting heavy things  Tripping and stumbling  Bad coordination  Trouble projecting his voice  Slurred speech

DIFFERENTIAL DIAGNOSIS  There was an option that he may have a brain tumor in the frontal lobe. This was ruled out because usually, when there is a brain tumor in the frontal lobe, there is usually behavioral changes along with other symptoms.  There was also an option for tremors. This diagnosis was ruled out because in this case, there would be many tremors in many parts of the body and that is unusual.  Our last differential diagnosis was Rhabdomyolysis. This was ruled out because it only affects the muscles such as in the hands or feet, it usually doesn’t affect speech.

ACCURATE DIAGNOSIS  The accurate diagnosis for Andrew is Amyotrophic Lateral Sclerosis (ALS)/ Lou Gehrig’s Disease. His feelings of weakness, tripping and stumbling, and slurred speech led us to this diagnosis.  ALS can have many symptoms. For most people, muscle weakness and muscle twitching are the first signs. For more progressed diagnoses, slurred speech can be a symptom.  With symptoms most like other ALS cases, ALS was the most accurate diagnosis.

EXAMPLE OF SYMPTOMS VIDEO (1:47-2:08)

TEST TO DETERMINE DIAGNOSIS  Electromyogram (EMG)  During this test, a doctor inserts a needle electrode through your skin. It tests the electrical activity in your muscles when they are contracted and at rest. If electrical activity is low, it can be used to diagnose ALS.  Magnetic resonance imaging (MRI)  Uses radio waves and a powerful magnetic field to produce detailed images of your brain and spinal cord. This can be used to eliminate other factors that may be causing the symptoms.  Nerve Conduction Study  This study measures your nerves' ability to send impulses to muscles in different areas of your body. This study can be used to determine nerve damage or muscle diseases.

ERRORS IN COMMUNICATION  In ALS, the immune system damage the axon and dendrites of motor neurons. This will ultimately destroy the neurons ability to transport messages from one neuron to another. This can be dangerous because eventually, messages can no longer be sent from the brain because of damage to motor neurons.

WHAT IS THE CAUSE  Although the true cause is unknown there are many theories as to how the motor neurons are damaged, such as during the process of RNA there is a protein that becomes a mutation due to an incorrect amino acid. This mutation then leads to the shriveling and degeneration of the motor neurons. Other believed causes are genetic mutation (inherited from a parents), chemical in balance (normally have higher levels of glutamate, a liquid surrounding the brain and nerve cells, that can be toxic if too much is present), or disorganized immune system (attacks the body’s own nerve cells, or any cell in general).

PROGNOSIS  Many people with ALS die of respiratory failure within 3-5 years of being diagnosed.  Individuals have increasing problems with moving, swallowing, and speaking/forming words.  Eventually people with ALS will no longer be able to stand or walk, get in or out of bed, or use their hands and arms.  In the later stages of this disease certain individuals will have difficulty breathing due to the muscles of the respiratory system weakening.  10% of individuals may be able to survive 10 or more years.

TREATMENT  There is no cure  There is a drug known as Riluzole and it is the only drug for ALS that is FDA approved. It can prolong life for about 2-3 months. It does not relieve the symptoms though.  NeuRx Diaphragm Pacing System uses implanted electrodes and a battery pack to cause the diaphragm to contract. It can work for about 16 months before the onset of severe respiratory failure. This is also FDA approved.  Drugs are available for spasticity, pain, panic attacks, and depression.  Physical Therapy, Occupational Therapy, and rehabilitation may help with joint immobility.  Some patients may agree to forms of mechanical ventilations.

WHERE IT ALL STARTED  Lou Gehrig was a baseball player in the 1920s- 1930s who was diagnosed with ALS and brought a lot of light on the disease. He played major league baseball for over 13 years of his life on first base for the New York Yankees. He became very popular and competed against Babe Ruth for major titles. Lou was also given a spot in the hall of fame. He was first diagnosed with a bladder condition, but the treatment only made him weaker. This lead the doctors to ALS, or later called Lou Gehrig’s Disease.

CARETAKER  Andrew will need may need a caretaker in the later stages of ALS. This caretaker may help with feeding him and helping him perform every day activities. Also, he may need breathing care.

PHYSICAL THERAPIST  A physical therapist can help him with exercising muscles to help prolong muscle function. Andrew will only need a physical therapist for the time that he can use his muscles. Once he loses all ability to move his muscles, he will not need a physical therapist any longer.

OCCUPATIONAL THERAPIST  An occupational therapist may help Andrew perform everyday activities for a longer amount of time. Over time, the need of an occupational therapist will be less and less because he will eventually lose all ability to perform all every day activities.

SPEECH THERAPIST  A speech therapist can help with the communication abilities of Andrew over time. He will eventually not need a speech therapist once his speech ability is lost.

PSYCHIATRIST  Andrew may need psychological and social support to help deal with the understanding and acceptance of his disease.

SOCIAL WORKER  A social worker may be needed to help decide who Andrew’s children will go after his passing. This can help with some of the psychological stress of Andrew and his children.

ALS STORY