Mutations in the BSCL2 gene to an distal hereditary motor neuropathy (dHMN) and Spastic Paraplegia type 17 (SPG17) also known as Silver Syndrome. This condition leads to distal muscle weakness of hands and feet, difficulty walking with muscle stiffness (known as spasticity), high-arched feet, and has a dominant inheritance. Although it is considered a rare disease, its exact prevalence is unknown.
However, recessive mutations in the same gene lead to a congenital generalized lipodystrophy (loss of adipose tissue) in children.
BSCL2