The diagnosis of<unk>  can be done via two methods, a muscle biopsy or a blood draw with genetic testing for GCG trinucleotide expansions in the PABPN1 gene. The genetic blood testing is more common. Additionally, a distinction between<unk>  and myasthenia gravis or mitochondrial myopathy must be made, in regards to the differential diagnosis of this condition.
Oculopharyngeal muscular dystrophy
Ataxic cerebral palsy
Athetoid cerebral palsy
Infantile progressive bulbar palsy
Skoptic syndrome
Dyskinetic cerebral palsy
Spastic cerebral palsy
Spinal and bulbar muscular atrophy