Neurol India Home 

Year : 2015  |  Volume : 63  |  Issue : 6  |  Page : 989--991

Achalasia cardia causing dysphagia in amyotrophic lateral sclerosis

Rohan Mahale, Anish Mehta, Madhusudhan B Kempegowda, Mahendra Javali, Srinivasa Rangasetty 
 Department of Neurology, M.S. Ramaiah Medical College and Hospital, Bengaluru  -  560  054, Karnataka, India

Correspondence Address:
Rohan Mahale
Department of Neurology, M.S. Ramaiah Medical College and Hospital, Bengaluru  -  560  054, Karnataka

How to cite this article:
Mahale R, Mehta A, Kempegowda MB, Javali M, Rangasetty S. Achalasia cardia causing dysphagia in amyotrophic lateral sclerosis.Neurol India 2015;63:989-991

How to cite this URL:
Mahale R, Mehta A, Kempegowda MB, Javali M, Rangasetty S. Achalasia cardia causing dysphagia in amyotrophic lateral sclerosis. Neurol India [serial online] 2015 [cited 2020 Aug 9 ];63:989-991
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive impairment of motor functions at the bulbar and spinal levels.[1] In two-thirds of the patients with ALS, the onset is at the spinal level, with atrophy and weakness of the upper and lower limb muscles (limb-onset ALS); in the remaining one-third, the onset is at the bulbar level presenting clinically with dysarthria and dysphagia (bulbar-onset ALS).[2] Here, we report a patient with limb-onset ALS of 3 years duration who presented with dysphagia of recent onset. The cause of dysphagia was, however, achalasia cardia and not bulbar extension of the disease.

A 56-year-old man had a history of progressive weakness of all four limbs of 3 years duration. The symptoms started bilaterally in his upper limbs in the form of weakness and wasting of small muscles of the hand. Within a year of the onset of symptoms, he started to experience difficulty in lifting his upper limbs above the shoulder along with difficulty in changing clothes, eating, buttoning shirts, etc. Six months prior to presenting to us, he started experiencing difficulty in getting up from the squatting position and from the floor and in going up and down the stairs (with buckling of the knees). The weakness was also associated with wasting and fasciculations in the affected muscle groups. He presented to us with a 1-month history of dysphagia to both solids and liquids. There was no history of slurring of speech, nasal regurgitation, sensory symptoms, or bowel/bladder dysfunction. There were no other comorbidities and no significant family history. On examination, he was conscious and oriented. Higher mental functions and speech were normal. Extraocular movements and facial as well as jaw muscles were normal. Jaw jerk was present. Palatal movements and gag reflex were preserved. Tongue showed mild atrophy with fasciculations; however, its movements were preserved. Motor examination showed lower motor neuron type weakness of small muscles of the hand, shoulder girdle muscles, as well as the quadriceps. Deep tendon reflexes were brisk with preserved superficial reflexes. Plantar responses were flexor bilaterally. Sensory examination was normal. Complete hemogram, renal, hepatic, and thyroid functions including creatine phosphokinase were normal. Nerve conduction studies revealed motor axonopathy of all four limbs. Electromyography showed neurogenic changes in cervical, lumbar, and paraspinal musculatures. A diagnosis of limb-onset ALS was, therefore, made. Magnetic resonance imaging (MRI) of the brain and whole spine including the craniovertebral junction were normal except that the latter showed a surprising finding of dilated esophagus in the posterior mediastinum [Figure 1]. For confirmation, he was evaluated with upper gastrointestinal endoscopy that showed a dilated, aperistaltic esophagus with food residue along with narrowing of the gastroesophageal junction. No evidence of malignancy was seen on endoscopic biopsy specimens. Barium swallow finding was also consistent with the diagnosis of achalasia cardia [Figure 1]. The patient was subjected to endoscopic balloon dilatation of the distal esophagus after which he showed some improvement in his dysphagia. The patient was additionally worked up for discovering any underlying cause of ALS using a fluoro-deoxy glucose positron emission tomographic scan (to evaluate for an occult malignancy), serum protein electrophoresis, and human immunodeficiency virus serological test.{Figure 1}

The clinical hallmark of ALS is the presence of concomitant upper motor neuron and lower motor neuron disease involving the brainstem and the spinal cord-innervated regions.[1] ALS can be limb onset or bulbar onset, depending on the muscle groups initially affected.[2] Our patient presented with a limb-onset ALS with a history suggestive of recent bulbar involvement (dysphagia). However, other features of bulbar involvement were not present. Incidentally, MRI spine, done to rule out any extrinsic or intrinsic cord pathologies, revealed a dilated esophagus in the posterior mediastinum. Ultimately, the cause of dysphagia turned out to be an underlying achalasia cardia.

Achalasia cardia in ALS can occur because of degeneration of the dorsal motor nucleus of vagus nerve leading to parasympathetic denervation of the esophagus. The denervation eventually leads to the changes that characterize achalasia cardia.

This case demonstrates the occurrence of achalasia cardia in ALS, an association not frequently encountered in the clinical practice. Hence, the occurrence of dysphagia in ALS may not always imply bulbar spread of the disease and other possible causes of dysphagia in ALS such as achalasia should be considered.

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1Simon NG, Turner MR, Vucic S, Al-Chalabi A, Shefner J, Lomen-Hoerth C, et al. Quantifying disease progression in amyotrophic lateral sclerosis. Ann Neurol 2014;76:643-57.
2Quartuccio N, Van Weehaeghe D, Cistaro A, Jonsson C, Van Laere K, Pagani M. Positron emission tomography neuroimaging in amyotrophic lateral sclerosis: What is new? Q J Nucl Med Mol Imaging 2014;58:344-54.