“A 65 years old man was complaining difficulty strating two years before, climbing stairs, getting up from a chair (only with help), and if he lowers himself towards the ground he cannot to re-extend without help, weakness of the upper girdle, apparently no sensory disturbances.
Past medical history was including Sjogren’s disease (anti-ENA positivity for anti-SSA and SSB), hyperuricemia, diabetes, hypertension, one year before referring to us, marginal zone lymphoma extranodal (MALT).
At the beginning we evidenced arms and legs ubiquitous mild strength impairment, absent tendon reflexes, hypopallesthesia at the bilateral malleolus with elettrophysiological examination showing severe sensory/motor polyneuropathy with no myopathic findings; the elettrophysiological study was stable after one year. Blood markers were negative for common cause of neuropathy , mild albumin-citologic spinal fluid dissociation was present. Creatine Kinase was mildly elevated. Due to a costant progressive diffuse weakness a muscle MRI was perfomed after another year showing biceps and quadriceps femoris adipose dystrophy bilaterally and a muscle biopsy was suggestive for inclusion body myositis.
NGS genetic analysis for myopathies and muscular dystrophies results gave heterozygous variants ANO5, MEGF 10, NEB EXON 81 AND 129 in homozygous varinate SUNE nm EXON 32
In 7 years follow up he developed more pronounced hypostenia, involving also distal legs hypostenia with footdrop; EMG was almost stable, without floride spontaneous activity and MRI not possible ( recent pacemaker placement).
Still, we are trying hard to find a main ethiology : could it be a ANO5 spectrum muscle disease?”