Amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis (ALS)Jillian La Monte FNP-SWhat is ALS?Amyotrophic lateral sclerosis (ALS), often referred to as "Lou Gehrig's Disease, it is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord.ALS is a progressive degenerative disease that affects the upper and lower motor neurons (UMN and LMN). It is currently incurable and eventually leads to death.

ALS

PathophysiologyDegeneration of the UMN and LMN with their respective axons and with gliosis replacing lost neurons. Leads to spinal cord atrophy, thin ventral roots and loss of large myelinated fibers in motor nerves. EtiologySporadic: cause is unknown, but elevated levels of glutamate have been found in serum and CSF. Familial ALS: a genetically transmitted degenerative disease.Guam ALS and Parkinson-dementia complex: possible relationship to ingestion of the cycad nut or to some other environmental toxin.EpidemiologyEstimated prevalence rates range between 2.7 and 7.4 per 100,000.

Predominant age: Uncommon before age 40. Typical age is 40-60 years of age.

Predominant sex: Male>Female in sporadic ALS:After age 70: Male=FemalePrognosisALS usually results in death within 5 years.

Patients who predominantly manifest progressive muscular atrophy have a better prognosis.

There are have been reports of spontaneous arrest of the disease.Risk FactorsHeredity: 5 to 10 percent of the people with ALS inherited it (familial ALS). In most people with familial ALS, their children have a 50-50 chance of developing the disease.Age: ALS most commonly occurs in people between the ages of 40 and 60.Sex: Before the age of 65, slightly more men than women develop ALS. This sex difference disappears after age 70.

Environmental FactorsSmoking

Lead exposure

Military serviceSmoking cigarettes appears to increase a person's risk of ALS to almost twice that of a nonsmoker. The more years spent smoking, the greater the risk. However, quitting smoking can eventually lower the increased risk.Some evidence suggests that exposure to lead in the workplace may be associated with the development of ALS.Recent studies indicate that people who have served in the military are at higher risk of ALS. Exactly what about military service may trigger the development of ALS is uncertain, but it may include exposure to certain metals or chemicals, traumatic injuries, viral infections and intense exertion.

9Clinical FindingsUnexplained weight lossLimb weakness with variable symmetry and distributionGait disorder (steppage-waddling)Slurring of speechInability to control affect (inappropriate laughing, crying, yawning)Focal atrophy of muscle groups (initially in a myotomal distribution)Fasciculation's (other than calves)HyperflexiaBabinski sign, present in 50% of patientsSpasticitySialorrheaSpares cognitive, oculomotor, sensory, and autonomic functionsDifferential DiagnosisMultifocal motor neuropathyCervical radiculomyelopathyCervical spondylosisLead intoxicationSpinal muscular atrophy (adult form)Familial spastic paraparesisLyme diseaseSpinal multiple sclerosisTropical spastic paraparesisMyasthenia gravisDiagnostic TestLabNo simple reliable laboratory test is available that confirms the diagnosis. Creatinine kinase levels may be elevated.Elevated levels of glutamate in CSF and serumAntimonosialoganglioside autoantibodies in low titer commonly found (of unclear significance)Possibly reduced levels of nerve growth factor.DiagnosticsElectro diagnostic tests including electromyography (EMG) and nerve conduction velocity (NCV)

Blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24-hour urine collection for heavy metals

Spinal tap

X-rays, including magnetic resonance imaging (MRI)

Myelogram of cervical spine

Muscle and/or nerve biopsy

Neurological examination

MRI are typically done with the patient because it needs to rule out any other diagnosis. 13TreatmentRiluzole 50mg PO BID- decreases the release of glutamate and it slows the disease progression.

Riluzole withhold should be considered for patients developing fatigue. Monitor LFTs for hepatic dysfunction and CBC for neutropenia.The only FDA approved drug for ALS. It produces a slight prolongation in life expectancy.14Additional TreatmentBaclofen 5mg PO TID, initially, followed by gradual increase 5mg/d every 4-7 days; not to exceed 80mg/d divided QID.

Tizanidine 4-8mg PO q8h PRN; not to exceed 36mg/d. These medications will be used to relieve sever spasticity.15Non-pharmacological TreatmentBreathing carePhysical TherapyOccupational TherapySpeech TherapyNutritional SupportPsychological & Social Support

ComplicationsAspiration Pneumonia

Pulmonary Embolism

Nutritional Deficiency

Complications from wheelchair-bound or bedridden states, including decubitus ulcer and skin infections.Follow-upInitially every 3 months; frequency to be increased as needed for symptomatic therapy.Patients with a presumed diagnosis of ALS should have neuroimaging and electrodiagnostic studies. EducationThe Muscular Dystrophy AssociationThe ALS AssociationFamilies of Spinal Muscular Atrophy

ReferralNeurologistSurgeonGastroenterologistPulmonologistRespiratory TherapistMultidisciplinary referrals are needed in order to optimize health care delievery, prolong the survival and enhance quality of lifeNeurologist needed for early diagnosisYou may need a trach or g-tube placedPulmonologist needed for the management of the ventilator.20Question #1What medication is the only FDA approved medication for ALS?a. Riluzoleb. Baclofenc. Azithromycind. TizanidineAnswer #1Riluzole; 50mg PO BID is the only FDA-approved drug for ALS. It produces a slight prolongation in life expectancy by decreasing the release of glutamate and it slows the disease progression.Question #22. Average survival rates for patients with ALS?a. 1-2 yearsb. 3-5 yearsc. 6-7 yearsd. >10 yearsAnswer # 22. B. 3-5 years, is the average survival rate with 10% patients surviving greater than 10 years.Question #33. Early symptoms of ALS include all of the following expect?a. Difficultly walking, tripping or difficultly doing your normal daily activities.b. Slurring of speech or trouble swallowing.c. Muscle cramps and twitching in your arms, shoulders and tongue.d. TachycardiaAnswer # 33. D. tachycardia; The disease frequently begins in your hands, feet or limbs and then spreads to other parts of your body. As the disease advances, your muscles become progressively weaker. This weakness eventually affects chewing, swallowing, speaking and breathing. Question #44. Besides medications additional forms or treatment for ALS include; select all that apply.a. Breathing careb. Physical Therapyc. Occupational Therapyd. Speech Therapye. Nutritional Supportf. Psychological & Social SupportAnswer # 44. All are correct forms of therapy. For the patient suffering from ALS. Question #55. What is one of the primary ways of diagnosing ALS?a. EMGb. MRIc. X-rayd. Signs & SymptomsAnswer #55. D. Signs and Symptoms; ALS is primarily diagnosed through signs and symptoms, the physician observes in the patient and a series of tests to rule out other diseases. Question #66. At what age does ALS commonly occur?a. 10-20b. 20-30c. 40-60d. 70 or olderAnswer #66. C. At 40-60 years of age is the most commonly age in which ALS occurs.Question #77. Risk factors for a patient with ALS including all of the following expect?a. Smokingb. Family Historyc. Age >40d. ExerciseAnswer #77. D. Exercise, the following family history, age of older then 40, smoking, and sex have all been linked to risk factors for developing ALS.

Question #88. Although there is no definite laboratory study for diagnosis ALS which lab work will show an elevation?a. BUN and creatinine levelsb. Creatinine Kinasec. WBCd. TSH levelsAnswer #88. B. Creatinine kinase levels, may be elevated in patients with ALS. Question #99. ALS is a progressive degenerative disease that affects the?a. upper neuronsb. lower neuronsc. upper and lower neuronsd. none of the above.Answer #99. ALS is progressive disease that affects the upper and lower neurons. This disease is currently incurable and eventually leads to death. Question #1010. Multidisciplinary care may be needed for patients with ALS, referrals can be made to all of the following expect?a. Neurologistb. Hematologistc. Pulmonologistd. SurgeonAnswer #1010. B. Hematologist, referrals will be made throughout the span of ALS patients, these include neurologist, which will help with an early diagnosis. Gastroenterologist and surgeon for placements of tracheostomy. and/or G-tube. Patient will be referred to a pulmonologist as well for management of tracheostomy. ReferenceDomino, F. (2014). The 5-minute clinical consult premium. Philadelphia: Lippincott, Williams & Wilkins. Mayo Clinic Staff. (2014, April 09). Disease and conditions amyotrophic lateral sclerosis. Retrieved from http://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/basics/risk-factors/con-20024397 National Institute of Neurological Disorders and Stroke. (2015, March 05). Amyotrophic lateral sclerosis (als) fact sheet. Retrieved from http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm The ALS Association. (2014). About als. Retrieved from http://www.alsa.org/about-als/