Hereditary Neuralgic Amyotrophie, HNA - SEPT9

Klinische Symptomatik

Hereditary neuralgic amyotrophy (HNA) affects the shoulders and upper arms and is thus easily distinguishable from HMSN1:

• Recurrent burning pain in shoulder and arm
• Painful inflammation of N. plexus in the arm region
• Elektrophysiologically, an axonal lesion of Plexus brachialis is dectable
• The disappearance of pain is followed by pareses.
• Recovery from pareses within 3-4 months.
• Hypotelorismus and cleft palate in rare cases

 

HNA is occasionally accompanied by a hereditary neuropathy with liability to pressure palsies (HNPP) caused by deletion of the PMP22 gene (chromosome 17p12). HNPP may show signs of a plexus lesion.

Genetik

HNA follows a pattern of autosomal dominant inheritance and is caused by mutations in the SEPT9 gene (SEPTIN9) located on chromosome 17 (17q25).

Häufigkeit

Rare

 

Diagnostik