BSCL2-related dHMN can manifest at any time in the life of a patient and shows a variety of symptoms including a distal muscle weakness and atrophy of hands and feet, difficulty walking with muscle stiffness (also known as spasticity), high-arched feet, and sometimes mild sensory symptoms. The progression of the disease is usually slow and most patients remain ambulant. Respiratory insufficiency is rare.
BSCL2