gMS^®Dx Case Study 
Case Study # 1:  Illustrates the difficulty in diagnosing patients presenting with relatively mild symptoms over a long period of time.

A 38-year-old man in excellent health with no prior neurological symptoms. In April 1992 he awoke with left arm numbness. Over the next 15 days, this changed to involve the entire left side of his body (except his face). He also had left-sided weakness, difficulty with gait and a L’hermitte’s sign (tingling in his left foot with neck flexion). He was first seen at the University of California, San Francisco, USA, in July 1992 when he was considerably better, but with some residual numbness in the left hand. One week prior, he had experienced some numbness at the tip of the right ring finger, which had waxed and waned since onset.

Case Study # 2:  Demonstrates a patient with severe disability at disease onset. An accurate and early diagnosis is desirable so that the appropriate treatment can be offered promptly to alleviate the symptoms and favorably affect disease progression.

A 31-year-old woman with severe disability was in excellent health until 1996, when she noted weakness and clumsiness of her right arm and dragging of her right leg. These symptoms had progressed over several days, and she was evaluated in the Emergency Room. Her examination was remarkable for a mild spastic right hemiparesis (affecting her face, arm and leg), a moderate right hyper-reflexia, and a right Babinski sign.

Case Study # 3:  Follows the progress of a 40-year-old man with an unusual disease course. It illustrates the dilemma of diagnosing and choosing appropriate management in such a patient.

A 40-year-old man was seen at the University of California, San Francisco, USA, in January 2002. He had been in excellent health and asymptomatic until 1981 when he noted an “electric shock-like” sensation which ran down his back and into his arms and legs following neck flexion. This symptom subsided over several months but did not disappear completely. A comprehensive examination, including an MRI, was normal.

gMS^®Pro EDSS Case Study
Case Study # 1: (gMS^®Pro EDSS - RRMS):
A 29 year old man was diagnosed with relapsing-remitting multiple sclerosis one year ago after experiencing a second demyelinating event. At that time, he was started on Glatiramer acetate and has been relapse-free for the last year. He now presents to his neurologist with new onset numbness from the mid-abdomen down. Transverse myelitis is suspected and an MRI of the thoracic spine reveals a new enhancing lesion. The patient is treated with a course of intravenous Methylprednisolone and has resolution of his numbness. His neurologist believes his treatment should be escalated to Natalizumab. The patient, however, has tolerated his Glatiramer acetate well and is nervous about the risk of PML.

In this scenario, the patient has experienced a clinical relapse despite treatment with a first-line disease modifying therapy. As he is tolerating the Glatiramer acetate well, it may be reasonable to continue him on this medication with close follow-up and frequent imaging. However, if the medication is not working, he is likely to continue to experience inflammation and axonal loss during that time, which could lead to greater disability. If the neurologist had the gMS EDSS test available to him, it would be possible to predict the likelihood of disability progression. The neurologist would then be able to make a more informed decision about the need to escalate therapy.

Case Study # 2: (gMS^®Pro EDSS – CIS)
A 21 year old man presents to a neurologist with complaints of horizontal diplopia when looking to the left. He is noted to have weakness of adduction of the right eye. His neurological examination is otherwise normal. An MRI is obtained that reveals a moderate lesion burden affecting the cerebrum and several brainstem lesions. Five of the lesions are enhancing. The patient is treated with a course of intravenous Methylprednisolone with only partial improvement of his double vision. His neurologist is concerned that the patient may be at high risk for disability progression and is considering starting with a potent second-line agent such as Fingolimod or Natalizumab. However, the neurologist is unsure if he should start with a lower risk first-line agent.

In this scenario, the neurologist is faced with a CIS patient who has risk factors for later disability progression. It may be reasonable to use an aggressive therapy in this patient from the beginning, but this would carry increased risk of significant adverse events. Information from the gMS^®Pro EDSS test, indicating the patient’s likelihood of disability progression, would be very useful in this situation. It would help to shed light on the correct treatment option for this patient.