Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy. It can be associated with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases Differential diagnosis DDx includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN),<unk> –Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.
Marinesco–Sjögren syndrome
Sjögren–Larsson syndrome
Auto-brewery syndrome
Anti-IgLON5 disease
Neuro-Behçet's disease
CREST syndrome
TNF receptor associated periodic syndrome
Denys–Drash syndrome