Hereditary neuralgic Amyotrophy – a case report of an affected family

Hereditary neuralgic amyotrophy is characterized by sudden onset of severe pain in the shoulder girdle followed by muscular atrophy within 2 weeks after onset of symptoms. It usually occurs in the second or third decade of life and is often associated with residual neurological deficits.

We are presenting a case about siblings which we have treated in an interval of 2 years with the typical symptomatology. Family history revealed that their father was also affected during his early age. The first examination took place 2 to 4 weeks after the pain began. Both patients presented with scapula alata and partial palsy of the right upper limb. In the electromyography, we have seen a complete denervation of the infraspinate muscle and also in one patient of the biceps brachii muscle. When patients were discharged after treatment with Prednisolon for 1 week and undergoing intensive physical therapy residual symptoms were still present.

Considering the history of this syndrome that runs in the family, we initiated genetic diagnostics and verified a heterozygote mutation in SEPT9-Gen in one of the patients.