Hereditary Neuropathy with Liability to Pressure Palsy (HNPP)

Hereditary neuropathy with liability to pressure palsy (HNPP) is characterized by recurrent episodes of sensory and motor neuropathy in a single nerve. While any nerve in the peripheral nervous system can be affected, the ulnar, peroneal, median, brachial plexus and radial nerves are most commonly affected1. Almost all affected individuals show prolongation of distal nerve conduction latencies. Other features include: reduced or absent tendon reflexes, pes cavus, episodic foot drop, atrophy and weakness of the hands, carpal tunnel syndrome, and pain, while less common features include: motor brachial paralysis, proximal muscle atrophy, respiratory insufficiency, white matter lesions on brain MRI, hypoglossal nerve paralysis of the tongue, and scapuloperoneal syndrome. An episode can last from minutes to months. Individuals typically present in the 2nd or 3rd decade, although the age of onset can range from neonatal period into the 7th decade.

Tests Available

Forms and Documents

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Exon Array CGH

Ordering

742
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  2. Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  3. Li, J (2012) Semin Neurol. 32(3): 204-214.
  4. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33.
  5. Siskind et al. (2013) J Genet Counsel 22:422-436.

Forms and Documents

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Next-Gen Sequencing

Ordering

888
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81325x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
  2. Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetes
  3. Li, J (2012) Semin Neurol. 32(3): 204-214.
  4. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
  5. Siskind et al. (2013) J Genet Counsel 22:422-436.