Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?

Clin Case Rep. 2020 Apr 23;8(7):1223-1225. doi: 10.1002/ccr3.2899. eCollection 2020 Jul.

Abstract

A 61 year old man with facial diplegia, quadruparesis, tongue atrophy/fasciculations, bulbar speech, muscle weakness/wasting, hypotonia, tremor, dysdiadochokinesia, absent tendon reflexes, fasciculations, and gynecomastia, received immunoglobulins for suspected immune-neuropathy with limited benefit. After reconsideration, Kennedy disease was diagnosed upon 44 CAG repeats in AR. In conclusion, immunoglobulins exhibit limited benefit on immune-neuropathy in patients with coexisting KD.

Keywords: Kennedy disease; immunoglobulins; motor neuron disease; phenotype; polyglutamine disease; polyneuropathy.

Publication types

  • Case Reports