Catalan researchers report the observation of a 40-year-old patient diagnosed with TANGO2-related myopathy (deletion extending from exons 3 to 9). This neuromuscular disorder is ultra-rare, transmitted on an autosomal recessive mode, and generally classified as a mitochondrial cytopathy.
- The patient presented with muscular signs (including an episode of severe rhabdomyolysis at the age of 24 and cardiac arrhythmia) and moderate cognitive impairment,
- The clinical presentation was similar to that of limb-girdle muscular dystrophy with pseudohypertrophy of the calves,
- Muscle histology revealed endomysial fibrosis and non-specific myopathic signs.
The discovery of a relatively benign and poorly progressive form of TANGO2-related myopathy argues in favour of a broader phenotypic spectrum than expected.
