Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with a higher prevalence in Finland:
- the clinical and biochemical data of 11 Finnish patients were compared with those of 26 patients with mitochondriopathies and 28 healthy subjects,
- all underwent a battery of tests designed to explore mitochondrial functions, including exercise tests and lactate and ammonia levels,
- subjects with JSMA had a comparable profile to patients with mitochondriopathies in the exercise test, but not for the other parameters tested.
Despite a few atypicalities, these results confirm the presence of mitochondrial dysfunction in this syndrome caused by the CHCHD10 gene.
