HNPP: clinical phenotypes
Evidence-based neurology checklist on hnpp: clinical phenotypes: Typical phenotypes Asymptomatic Recurrent short term positional sensory symptoms Progressive mononeuropathy Chronic sensory neuropathy Chronic sensorimotor neuropathy Chronic inflammatory demyelinating polyneuropathy-like Recurrent…
Typical phenotypes
- Asymptomatic
- Recurrent short term positional sensory symptoms
- Progressive mononeuropathy
- Chronic sensory neuropathy
- Chronic sensorimotor neuropathy
- Chronic inflammatory demyelinating polyneuropathy-like
- Recurrent subacute polyneuropathy
- Subacute quadriparesis
- Scapuloperoneal phenotype
- Charcot-Marie Tooth (CMT) disease phenotype
Acronym
References
- Horowitz SH, Spollen LE, Yu W. Hereditary neuropathy with liability to pressure palsy: the development with axonal loss during military training. JNNP 2004; 75:1629-1631.
- van Paassen B, van der Kooi A, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J Rare Dis 2014; 9:38.
- Mouton P, Tardieu S, Gouider R, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999; 52:1440-1446.
