The symptoms of<unk>  are variable, but usually involve hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.<unk>  is usually diagnosed in infancy or childhood, but some patients remain asymptomatic until adulthood to middle age. While generally not progressive, there appears to be a growing number of people who do experience a slow clinically significant progression of symptomatology. These cases may be due to the large number of mutations of ryanodine receptor malfunction, and with continued research may be found to be clinical variants.
Central core disease
Synucleinopathy
Tauopathy
Vascular myelopathy
Surfer's myelopathy
Basal ganglia disease
Multiple system atrophy
Amyotrophic lateral sclerosis