The Patient’s History and Clinical Information The patient is a physically active 64 year-old man whose previous medical history includes:
Arterial hypertension under drug therapy for approximately 12 years, cholecystectomy for cholecystolithiasis, surgical procedures for bilateral carpal tunnel syndrome and bilateral trigger finger, double surgical procedure for meniscectomy on the left knee following double meniscus rupture and rupture of the medial meniscus in the right knee with surgical procedure performed some 6 months later.
His current medical condition commenced when the patient began experiencing motor difficulties in the left lower limb (reported as “fatigue in the left leg”) which he attributed to the muscular overload on this leg because of the orthopedic problem in the other meniscus. At that time the patient began also experiencing muscular cramps in the calves at night (left > right).
The patient skied throughout the winter despite feeling a strength deficiency in the lower limbs compared to previous years.
Then in late winter- spring the hyposthenia, mainly in the left lower limb, worsened to the point of creating difficulties with walking and maintaining balance; several falls occurred due to left foot drop. At the same time the patient began noticing postural tremors in both lower limbs and ubiquitous fasciculations in all 4 limbs.
In the past few months, to avoid falling, the patient has chosen to walk with the help of a cane.
Following sports medicine and neurological exams the objective clinical picture showed increased osteotendinous reflexes in the lower limbs and an increment in the muscle tone along with associated obvious, constant coarse fasciculations in the entire musculature except for that in the cranium region (tongue did not exhibit fasciculations and appeared of normal trophism). The neurologist diagnosed an “active denervation” and recommended tests which suggested a chronic, active and widespread motor neuronopathy and a benign substitute pathology at the level of some vertebral bodies.
The patient was then hospitalized. Upon his admission, an objective exam showed that the patient was alert, oriented in space and time and cooperative. No cephalalgia. Spastic paraparetic gait, more accentuated on the left. Barrè maneuver maintained with slight difficulty and a slight misalignment on the left. Foot drop on the left. Osteotendinous reflexes ubiquitously jerky. Bilaterally incorrect test for cortical reflexes. Normal sensitivity. Coordination tests partly invalidated by a hyper tone at the lower limbs level. Sub-continued fasciculations observed practically in the entire musculature of the soma except for the cranial musculature. Apparently undamaged cranial nerves. In particular, the tongue seemed undamaged as it appeared trophic and undamaged by fasciculations; no swallowing or phonation abnormalities observed.
Mobile velum.
Various blood and neurological tests were performed during the patient’s hospitalization, the results of which suggested a “motor neuron disease”..
During hospitalization, the clinical conditions of the patient appeared stable and he was discharged with a diagnosis of possible motor neuron disease pending the results of the antibody tests for a more accurate diagnosis.
The medical treatment prescribed at the time of the patient’s discharge, in addition to a medication for the treatment of arterial hypertension, already administered, included Losartan/Hydrochlorothiazide and Gabapentin, to be taken until the next out-patient visit scheduled one month after discharge.
After being discharged from the hospital the patient was examined by a neuro-rehabilitation specialist who, on the basis of the clinical and instrumental data, confirmed the diagnosis of a possible “motor neuron disease”, pending the results of diagnostic antibody tests performed at the Hospital, which would determine the start of therapy with Riluzole and the evaluation of the patient’s possible participation in a clinical trial study.
The “motor neuron disease” diagnosis was confirmed upon receipt of the pending test results. RILUTEK was prescribed (Riluzole molecule) and it was suggested to the patient to enroll in an experimental trial study.
Online Doctor Consultation – Medical Questions:
1) Can you confirm the diagnosis?
2) Can you confirm the therapy?
3) Any other alternative or experimental therapies?
4) What is the prognosis?
5) Any recommended centers?
The expert´s opinion
Chief Complaint:
The patient is a 64 year old male with a history of progressive leg weakness and diffuse fasciculation´s.
History of Present Illness:
The patient was in good health until he noted fatigue in the left leg after developing injury to the right meniscus. The noted leg weakness, which progressed over the following three months, resulted in left foot drop and gait instability, necessitating the use of a cane. A number of months later diffuse fasciculations appeared in the arms and legs bilaterally. Local neurological examination revealed increased muscle tone and reflexes throughout, and EMG/NCS reportedly demonstrated both chronic and active denervation in the legs. Upper extremity EMG was performed a week later, but the results of that portion of the test are unclear from the records. Basic serum studies at that time reportedly demonstrated no dramatic abnormalities. MRI of the spine revealed degenerative joint disease, most prominent at the C5-6 and C6-7 levels, as well as at L2-3.
Examination on admission to hospital revealed spasticity and weakness of both legs with a prominent left foot drop. Increased deep tendon reflexes were noted in the arms and the legs, with visible fasciculations in the arms and legs, but not the head or tongue. Serum studies during that admission were remarkable for a borderline CPK value. Brain MRI revealed hyperintensity on T2 in the vicinity of the subcortical motor pathways, interpreted as supporting upper motor neuron dysfunction, but was otherwise negative. Anti GM1 and anti-ganglioside antibodies and CSF IEF were normal. The diagnosis of motor neuron disease was made and riluzole, 50 mg PO BID was started.
Current Medications: Rilutek, Losartan/Hydrochlorothiazide, Gabapentin
ASSESSMENT AND PLAN:
1. Probable Amyotrophic Lateral Sclerosis (ALS) The patient’s history and reported physical examination, in concert with the reported findings of denervation change in the legs on EMG testing and central motor pathway abnormalities on MRI are most consistent with motor neuron disease. (ALS) Extensive evaluation for an alternative etiology, including imaging of the Brain and Spine, serum studies and CSF analysis have failed to reveal an alternative etiology for his symptoms. At this juncture, if the above information is accurate, it seems unlikely that any other disease process could produce this constellation of abnormalities. I have not examined this patient in person, nor have I seen any other laboratory or clinical information other than that provided below. This assessment is based solely upon this limited information, and is not equivalent to an evaluation in person.
QUESTIONS AND ANSWERS:
1. Can you confirm the diagnosis? I believe it is highly probable that the patient has Motor Neuron Disease (ALS or amyotrophic lateral sclerosis) based upon the information provided to me. The diagnosis of Motor Neuron Disease is based upon a probability assessment, as there is no single definitive test for its confirmation.
2. Can you confirm the therapy? The only therapy proven beneficial for ALS is riluzole, at the doses the patient is currently taking (50 mg PO BID). This medication has been shown to prolong the life of patients with ALS in many well done clinical trials.
3. Any other alternative medical services or experimental therapies? There are numerous clinical trials for the treatment of Motor Neuron Disease (ALS) worldwide. All agents being tested are experimental and unproven. Patients must make their own decisions as to whether or not they wish to participate as a subject in an experimental trial. Good resources for exploring ALS include both the MDA and ALSA websites ( www.als-mda.org ; www.alsa.org ). Ceftriaxone, a cephalosporin antibiotic, is being tested as a protective agent against further nerve damage in ALS in the US. Many other agents have been tested over the last 20 years, but only riluzole has proven beneficial.
4. What is the prognosis? Motor Neuron Disease (ALS) is a progressive disease in most patients, causing worsening weakness of the muscles of the arms, legs, head and neck due to damage to the pathways in the brain and spinal cord and to the nerves supplying the muscles. Patients lose arm and leg function, and eventually develop problems with speech and swallowing. Ultimately, the muscles of breathing are involved, causing progressive problems with respiration. Rehabilitation and assistive devices become important and can help with function as the arms and legs weaken. Communication devices can replace poor speech and feeding tubes can provide nutrition if swallowing becomes too impaired. Patients must decide whether they wish to choose respiratory support as the muscles of breathing weaken. This support can be from external devices, or from traditional breathing tubes and ventilators. Survival times vary greatly between different patients and depend upon how long it takes for the muscles of breathing to become involved. If patients choose a respiratory support device such as the mechanical ventilator, survival is prolonged, though the muscles continue to weaken. On average, patients fall into one of three groups: very fast progressors who develop respiratory problems in 6 months to 2 years; intermediate progressors who develop respiratory problems in three to five years, and slow progressors who develop respiratory problems after 5 years or longer. Each patient is different, and it is impossible to predict in the early stages of the disease how it may progress. Riluzole prolongs the time to respiratory failure in ALS patients by 10% or more. IMPORTANTLY: Patients enrolled in a dedicated ALS Center Clinic have a better quality of life and better care, and perhaps longer survival as well. I highly recommend all patients with ALS enroll in an ALS Clinic within reasonable traveling distance from their home.
5. Any recommended centers? Here is a good list: http://www.wfnals.org/clinics/euit.htm
