Bulbospinal muscular atrophy (Kennedy disease) responsive to immunoglobulins?

Abstract

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

• immunoglobulins
• Kennedy disease
• motor neuron disease
• phenotype
• polyglutamine disease
• polyneuropathy