Rare features such as scapular winging in association with motor neuropathy can also be seen in patients with TRPV4, or SORD variants, and in those carrying DYNC1H1, and BICD2 variants, where early proximal lower limb involvement is common.11-13 Tongue fasciculation and/or atrophy favours the diagnosis of juvenile amyotrophic lateral sclerosis associated with several genes including SETX, SPTLC1, SPTLC2, ALS2, FUS and SIGMAR1. The gene discussed is SPTLC1; the disease is juvenile amyotrophic lateral sclerosis.