Mutations in TRPV4 can induce a number of peripheral neuropathies with implications for skeletal muscles, such as hereditary motor and sensory neuropathy type 2C mainly presenting in the pediatric age (HMSN2C), scapuloperoneal spinal muscular atrophy (SPSMA), and congenital distal SMA [143,144,145,146]. The gene discussed is TRPV4; the disease is peripheral neuropathy.