Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1

We report the peripheral neuropathological findings of a patient with SMARD1 at 1 year and 1 month of age, when his muscle strength and respiratory symptoms had deteriorated and then stabilized for several months. Peripheral nerve biopsy revealed severely progressed axonal degeneration. This finding suggests the rapid progression of peripheral axonal neuropathy in SMARD1 that leads to its characteristic clinical course of respiratory failure and paralysis in the early infantile period.