Background Camptocormia can be a manifestation of a variety of neurological disorders. Underlying aetiology can often remain elusive.

Case Description An 81 year old man with previous polio presented with recurrent falls and a 30 year history of progressive difficulty standing straight. On examination, he had camptocormia, facial weakness, subtle fatigable ptosis, proximal limb weakness and superior pectoralis wasting.

Results of Investigations: Acetylcholine receptor antibodies (AChRabs) were positive (>20 nmol/L). Initial EMG demonstrated myopathic features. Subsequent single fiber EMG demonstrated increased jitter and block consistent with neuromuscular junction dysfunction. He was commenced on pyridostigmine and deterioration was observed on temporary cessation. The clinical picture was felt to be atypical for MG alone and subsequent testing confirmed fascioscapulohumeral muscular dystrophy (FSHD). Further clincal improvement was observed following intravenous immunoglobulin and oral prednisolone.

Discussion This camptocormic patient had concomitant supportive evidence of mysathenia gravis (MG) and FSHD, both recognised causes of camptocormia. AChRabs in degenerative neuromuscular disorders have been previously reported and may result from acquired autoinflammation. However, the combination of camptocormia, FSHD and MG has yet to be reported. In this case, the prolonged clinical course, myopathic EMG and sub–clavicular wasting prompted FSHD testing, highlighting the merits of meticulous clinical evaluation and re–consideration of even plausible existing diagnoses. Although the majority of weakness in this case was likely attributible to FSHD, there was an improvement following immunomodulation, suggesting some immunoresponsiveness. Although limited conclusions can be made anecdotally, this suggests immunomodudulation may benefit certain patients with degenerative neuromuscular disorders when AChRabs are present.