Diagnostic dilemma of amyotrophic lateral sclerosis (ALS): insights from the first ALS specialized clinic in Egypt

Abstract

Abstract Introduction Amyotrophic lateral sclerosis (ALS) diagnosis could be challenging in some cases and a thorough workup should be done to rule out ALS mimics. Thus, diagnosis should be made by an experienced neurologist and should be regularly reviewed. Objectives Review challenging cases from the ALS clinic that were misdiagnosed as ALS. Method/patients This is a descriptive study. We registered data of all patients coming for evaluation in the period between December 2018 and January 2020 at the international medical center (IMC) where the ALS specialized clinic is located. All patients underwent thorough clinical assessment according to the EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS), and the diagnosis of ALS was made based on El Escorial revised criteria. Results The records of 30 patients were available for review. Twenty-four patients out of 30 patients (80%) were diagnosed with ALS, and 6 patients (20%) were diagnosed with other disorders (ALS mimics). In the ALS group (24 patients), there are 18 males and 6 females (male to female ratio is 3:1); mean age of onset of ALS patients is 49.2 years ± SD 15.1 years; 18 patients (75%) had limb onset ALS and 6 patients (25%) had bulbar onset ALS. In the ALS mimics group (6 patients), there were 3 patients with multifocal motor neuropathy (MMN); 1 patient with celiac disease, 1 patient with mesothelioma, and 1 patient with cervical myelopathy. Discussion The percentage of ALS mimics in our study is higher than that reported in previous studies. This could be due to the small sample size and the deficiency of specialized ALS centers across the country. MMN was the most common ALS mimic syndrome. Factors leading to change the diagnosis from ALS to another ALS mimic disorder were the adherence to El Escorial revised criteria for the diagnosis of ALS, following EFNS guidelines for management, and looking for demyelinating features in electrophysiological studies according to the EFNS criteria.

Keywords

• IMC
• Amyotrophic lateral sclerosis
• ALS
• MMN
• Multifocal motor neuropathy
• Demyelination