Objective: We evaluated ALS patients reporting pain, either generalized or localized, at disease onset and determined whether this feature defined a specific ALS phenotype.
Patients and methods: We considered all consecutive ALS patients referred to our Motor Neuron Diseases Center between 2006 and 2016 and included only patients who fulfilled the El Escorial revised criteria for probable and definite ALS diagnosis. We then identified those cases who reported pain at disease onset and compared them to all remaining cases. Secondary causes of pain have been excluded.
Results: Our initial sample consisted of 108 patients (55 men and 53 women). We identified 5 cases with generalized pain and 16 cases with localized pain at disease onset, corresponding to 4.6% and 14.8% of the initial sample, respectively. Cases with generalized pain were all female and had an earlier disease onset (49.6 ± 1.5 vs 66.6 ± 10.2 yrs, p = 0.002). Cases with localized pain showed a preponderance of upper motor neuron symptoms/signs at disease onset. Patients with pain, either localized or generalized, had a significantly higher involvement of the limbs (82.6% vs 100%, p = 0.022), while the bulbar district was spared at disease onset (17.4% vs 0%, p = 0.008). More specifically, the proximal upper and distal lower limbs were more frequently affected by ALS in patients with pain at disease onset. In two cases, the clinical presentation was notable for the resemblance with complex regional pain syndrome.
Conclusion: The presence of pain at disease onset seems to relate to peculiar clinical features of ALS and may be pathophysiologically associated with neurodegeneration.
Keywords: ALS; Complex regional pain syndrome; Disease onset; Neurodegeneration; Pain; Somatosensory.
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