Bulbar-onset amyotrophic lateral sclerosis in a patient with genetically confirmed Huntington’s disease: a case study

Background The rationale for this paper is a description of a patient from Southeast Europe with genetically confirmed Huntington’s disease (HD), coexisting with sporadic, bulbar-onset amyotrophic lateral sclerosis (ALS).

To the best of our knowledge, the total number of reported cases with confirmed coexistence of HD and ALS is less than 20.

Thus, it is an extremely rare condition speculated to be in a range from 2 to 6 per billion, and data from this part of the World are completely missing.

Case presentation Here we report a 72-year-old female with a family history of HD who had generalized chorea and hyperreflexia.

Using the PCR-based test for the detection of the CAG triplet repeat expansion, the presence of HD was confirmed.

After several months, our patient had progressively developed dysarthria and dysphagia, followed by spastic quadriparesis, generalized muscle wasting, spontaneous fasciculations and sialorrhea.

The diagnosis of definite ALS was established based on the patient’s neurological status, electromyography findings and current El Escorial criteria.

Conclusions Our study emphasizes the need for the recognition of the co-occurrence of clinically distinct and rare genetic disorders, such as HD and ALS.

New insights from the studies dealing with these rare topics could significantly contribute to the contest of new gene therapy trials.