Disclaimer: The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature.

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder of the motor neurons. Most of the morbidity and eventual mortality is primarily the result of the bulbar and respiratory involvement by the disease. Otolaryngologists are frequently consulted to participate in the care of ALS patients and will occasionally be the first physician consulted if bulbar symptoms predominate.

ALS is one of several disorders classified as a motor neuron disease (MND). Diseases of the motor neuron are classified according to upper motor neuron (UMN) and/or lower motor neuron (LMN) involvement. Damage to the upper motor neurons (that is corticospinal or corticobulbar pathways) produces muscle weakness, spasticity and hyperactive deep tendon reflexes. Lower motor neuron damage (that is anterior horn cells and cranial nerve nuclei) produces muscle weakness with atrophy, fasciculations, flaccidity and decreased deep tendon reflexes. ALS has features of both upper and lower motor neuron damage. Progressive bulbar palsy is a form of MND that primarily involves the lower motor neurons of the cranial nerves, therefore symptoms are isolated to the head and neck. Some patients will also display UMN involvement of the cranial nerves and if this is the sole manifestation it is referred to as Pseudobulbar palsy. Progressive muscular atrophy is a MND that does not involve the cranial nerves and is due to lower motor neuron degeneration. Primary lateral sclerosis is a MND that primarily involves upper motor neurons without cranial nerve involvement.

Pathologic evaluation in ALS shows symmetric demyelinization of the pyramidal columns and loss of anterior horn cells in the spinal cord and in the motor nuclei of the bulb.

The majority of cases are sporadic and affect men twice as often as women. There is also geographic clustering in which the incidence is much higher than anywhere else in the world. The specific areas include: Guam, the Mariana Islands in the Western Pacific, and two small communities in the Kii peninsula of Japan. Approximately 5% of cases are familial and are thought to be transmitted in an autosomal dominant pattern. The average age at onset is 55 to 60 years and the incidence is approximately 1.6/100,000 people. The prognosis for ALS is dismal with 50% survival at three years, 20% survival at five years and 10% survival at ten years. Progressive bulbar palsy has an even worse prognosis with most deaths occurring within two to three years.

The diagnosis of ALS is based on the history and physical examination and supplemented by EMG and muscle biopsy findings. There is no single diagnostic test available that is pathognomonic weakness, atrophy, fasciculations, cramping, hyperactive deep tendon reflexes and spasticity that begins in the extremities and progresses to involve the head and neck later in the course of the disease.

Somewhere between 15 and 25% of patients will present initially with primary bulbar involvement. Some of the more common physical findings include: tongue weakness; atrophy and fasciculations; deficient elevation of the laryngohyoid complex with swallowing; deficits in buccal tone, lip movements and velopharyngeal function; malocclusion and weak bite from Vth nerve involvement; and decreased lower jaw jerk and palatal gag reflexes. It should be noted that oculomotor muscles, mentation, sensory and autonomic functions, and bowel and bladder functions are all preserved.

The otolaryngologist is usually consulted to help manage problems with swallowing, drooling, aspiration, and speech. ALS patients are subject to other disease processes and should undergo formal evaluation for their dysphagia, which includes a thorough head and neck examination, a CXR, cine-esophagram, manometry and endoscopy, if indicated, and evaluation by a speech pathologist.

The therapeutic management of these patients is a team effort and should involve the otolaryngologist, speech pathologist, and dietician. Initial management involves postural adjustments, improving the mechanics of swallowing and dietary modifications. These are only temporizing measures and eventually the patient will require tube feedings. An indwelling feeding tube should be placed early in the course of the disease before the patient becomes dehydrated and malnourished. A percutaneous endoscopic gastrostomy tube is the preferred method because it can be performed under local anesthesia. If nasal reflux is the primary problem teflon can be injected into passavant's ridge to shorten the distance between the pharynx and soft palate.

The management of saliva closely parallels the problems with deglutition because it primarily results from dysfunction in salivary transport during the oral phase. Another factor that causes increased difficulty with handling secretions is thickened saliva. Three factors that contribute to the development of thickened saliva are mouth breathing, pooling of saliva in the oral cavity and dehydration.

Thickened secretions are treated by a combination of fluid and drug management. Drug management includes quaifenisen and potassium iodide which increase salivary flow and thus thin the secretions. A third medication is papase, which is found in the supermarket in the form of meat tenderizer. Papase can be applied to the mouth with a cotton swab and will dissolve thickened secretions and allow for easier transport.

Transport problems can be treated with suction devices, medications and low dose radiation to the salivary glands. Suction and radiation are usually not very satisfactory but medications such as elavil in low doses and robinol are usually quite effective in reducing the production of saliva. Occasionally medications are not tolerated secondary to side effects in which case surgery can be used to control the sialorrhea.

Surgical procedures used to control transport problems include: tympanic neurectomy; major salivary gland duct ligation; submandibular gland excision; and major salivary gland duct transposition. Tympanic neurectomy and duct ligation are very effective when used in combination.

Rarely do ALS patients develop a significant problem with aspiration. Initial treatment should be conservative consisting of dietary modification and improving the mechanics of swallowing. Surgical intervention is rarely indicated in these patients and should be reserved for patients who are taking nothing by mouth, aspirating their secretions and have a reasonable respiratory prognosis.

A tracheostomy is usually the first procedure chosen to manage the aspiration, although it does not prevent aspiration even with the balloon inflated. Although rarely used, other procedures for aspiration include: vocal cord closure; epiglottic sew-down; tracheal diversion; and narrow field laryngectomy.

Abnormalities in speech are usually secondary to articulation problems but can also result from problems with velopharyngeal function and phonation. In a study by Carrow et al the most common abnormality was harsh voice in 80% followed by hypernasality in 75% and breathiness in 65%.

Evaluation should include a complete head and neck and neurologic examination, along with early referral to a speech pathologist. Inevitably these patients will become aphonic; therefore it is important that they are taught alternative means of communication early in the course of their disease.

Surgical intervention is usually not very beneficial although there are reports of teflon injection into the posterior pharynx to reduce hypernasal speech as well as the use of nasopharyngeal obturators and pharyngeal flaps. Some also advocate injecting the vocal cords with teflon to reduce breathiness.

In conclusion the otolaryngologist is frequently consulted to participate in the care of ALS patients and needs to be familiar with the disease process and the various treatment options available. Most importantly the decision to operate on a terminal patient must be approached very carefully. Since there is no hope for recovery the proposed operation should be undertaken only if the benefits derived from surgery outweigh the risks of an operation and anesthesia.

Case Presentation

A previously healthy 51-year-old black female developed a left foot drop and left hand weakness in 1984. She was diagnosed as having Amyotrophic Lateral Sclerosis (ALS) at an outside hospital at this time. She was reevaluated at The Methodist Hospital approximately nine months later at which point she had slurred speech, dysphagia for liquids, and positional dyspnea, in addition to progression of the weakness in her extremities. Physical examination in October of 1984 was remarkable for decreased muscle strength in all extremities, muscle atrophy, hyperactive deep tendon reflexes, gag reflex and jaw jerk, tongue fasciculations, sluggish vocal cord mobility, pooling of saliva, and normal sensory and cerebellar function.

Pulmonary evaluation revealed a forced vital capacity of 2.06 liters which was 45% of the predicted. Muscle biopsy showed atrophy of muscle fibers intermixed with normal muscle fibers and EMG/NCV showed denervation, normal sensory conduction and widespread fasciculations. All these findings were consistent with the diagnosis of ALS.

Evaluation by speech therapy was remarkable for a breathy voice with an occasional whisper, fluctuations in pitch, spastic oral motor signs, slow alternate motion rate of her tongue and a decreased ability to cough and clear her throat.

The disease progressed rapidly and in the span of six months she was unable to move her extremities, or communicate except by eye gestures. She was no longer able to eat or drink secondary to the dysphagia an required ventilatory support beginning in April of 1985. At this time a tracheostomy and feeding gastrostomy were performed and she was maintained on a ventilator at home until she finally succumbed to the disease approximately six years after her original diagnosis.

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