Key result
TTN-mutated HMERF links to selective atrophy of specific muscles regardless of disease severity.
Case Report (n=3)
Atrophy in selective trunk muscles observed on routine CT scans can aid in the differential diagnosis of hereditary myopathies associated with heart and respiratory failure.
Selective atrophy on routine CT may aid HMERF diagnosis; leaves open validation in larger TTN cohorts.
Hereditary myopathy with early respiratory failure (HMERF) with heterozygous mutations in the titin gene (TTN) is characterized by respiratory failure developing from the early phase of limb weakness or gait disturbance. Here, we describe a characteristic distribution of muscle involvement in three members of a HMERF family with a TTN mutation. Despite the differences in severity exhibited among the father, daughter and son, the systemic imaging studies showed a similar pattern among these individuals. The semitendinosus and fibularis longus muscles were selectively affected, as described previously. In addition, we found marked atrophy in the sternocleidomastoid and psoas major muscles, regardless of the disease severity. The atrophy in selective trunk muscles observed in routine CT scans can be useful for the differential diagnosis of hereditary myopathies with heart and respiratory failure.
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Aoki et al. (2020) conducted a case report in Hereditary myopathy with early respiratory failure (HMERF) (n=3). TTN mutation (C31712R) was evaluated on Muscle atrophy distribution. Three family members with HMERF due to a TTN mutation showed selective atrophy of the semitendinosus, fibularis longus, sternocleidomastoid, and psoas major muscles regardless of disease severity.
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