A 64y.o. female comes in complaining that she had a "swallow test and aspirates everything."
hint: you notice her voice is very weak.
Why is her tongue the key to solving the case?
Our patient had tongue fasciculations and was diagnosed with ALS amyotrophic lateral sclerosis . The disease can involve many parts of the body but is suspected when painless weakness develops in one or more regions of the body . Lower motor neuron involvement occurs early in the disease with fasciculations in the tongue or limbs. Upper motor neuron disease can develop later in the disease with hyperreflexia and stiffness.
If you have never seen tongue fasciculations please watch
In Lou Gehrig’s case motor weakness in the legs was the first sign of the disease
PRESENTATION OF ALS
Motor weakness is a hallmark of the disease Perhaps the most famous American with the disease was Lou Gehrig, a first baseman for the NY Yankees. He developed leg weakness and loss of coordination forcing him to retire from the game in 1941. He was diagnosed at the Mayo Clinic at age 36 and died at age 37 .
Bulbar involvement can present with swallowing difficulties , with liquids being aspirated most easily since they require the greatest muscle control. Bulbar refers to the the medulla oblongata which looks like a swelling or bulb at the top of the spinal cord. It controls muscles of the head and neck involved in speaking, swallowing, chewing and holding the jaw in place. Only 20-25% of patients present with bulbar symptoms, but his was the presentation in our patient.
Pseudobulbar symptoms are involuntary emotional responses like laughing or crying inappropriately.
A syrinx of the upper cord can mimic ALS
The differential for upper motor neuron bulbar signs includes: brainstem lesions caused by a syrinx, mass, stroke or demyelinating disease. Syringobulbia may cause lingual atrophy.
If the onset is rapid over hours or weeks consider myasthenia, Guillain-Barre(Miller Fisher variant), West Nile virus or botulism.. A large botulism outbreak occurred in 1994 in Texas when 30 people were sickened after eating foil wrapped baked potatoes. Four required mechanical ventilation. It was thought the foil kept the potatoes at a temperature where the botulism spores could grow.
WHO GETS ALS?
A family history of ALS or frontotemporal dementia can sometimes be obtained with 25-40% having a defect in the C9ORF72 gene. In cases without a genetic abnormality the cause may be infectious with Brucella, schistosoma or Mycobacterium avium being implicated. It is more common in military recruits and soccer players perhaps due to some soil borne cause.
Our patient underwent laryngoscopy in the ED to confirm the movement of the vocal cords which were normal; her imaging was also normal, and the prolonged course of her disease made the diagnosis of ALS possible. She received palliative care counseling on the neurology service and was discharged.
Pierce E. How did Lou Gehrig get Lou Gehrig’s disease? Mycobacterium avium subspecies paratuberculosis in manure, soil, dust and grass and amyotrophic lateral sclerosis clusters in football, rugby and soccer players. Med Hypotheses 2018 Oct;119:1-5.
Quotes about Lou Gehrig. Lougehrig.com. Archived from the original on October 29,2012.
Chio A, Calva A, Dossena M, et al. ALS in Italian professional soccer players: the risk is still present and could be soccer-specific. Amyotroph Lateral Scler. 2009 Aug;10(4):205-9
Angulo F, Getz J, Taylor P , et al. A large outbreak of botulism: the hazardous backed potato. J Infect Dis 1998Jul;178(1)::172-7.