Table 4.
Phenotypic presentations (chameleons) of IgLON5 disease.
| Sleep disorders | NREM and REM parasomnias (commonly vocalization, simple or finalistic limb movements, RBD), sleep apnea and stridor, excessive daytime somnolence |
| Bulbar dysfunction | Dysphagia, dysarthria, laryngeal stridor, recurrent acute respiratory failure (mimicking ALS or myasthenia) |
| PSP phenotype | VSGP and gait instability (restriction in upgaze is more than downgaze in contrast to PSP) |
| MSA phenotype | Parasomnia, dysautonomia (urinary dysfunction, episodic profuse sweating), stridor, parkinsonism, ataxia |
| Acute or subacute encephalopathy | |
| Huntington's disease (HD) phenotype | Cognitive impairment with chorea |
| Orofacial dyskinesia | Facial myokymia and orolingual myorhythmia (mimicking Whipple's disease) |
| Motor neuron disease (MND) phenotype | Distal muscle atrophy, fasciculation |
| Stiff-person syndrome spectrum (SPS) phenotype | Peripheral nerve hyperexcitability with cramps, hyperekplexia, stiffness, myokymia, neuromyotonia |
| Cerebellar ataxia phenotype | Postural and intention tremor, titubation, gait, and limb ataxia |
| Cervical and truncal dystonia |