Characterized by progressive hoarseness, noisy
respiration, nutritional failure associated with poor growth and
development, multiple subcutaneous and periarticular nodules, and
progressive arthropathies. Accumulation of ceramide in the nervous system
causes psychomotor retardation, peripheral neuropathy, and muscle
denervation. The heart can be involved in the disease process, with the
presence of granulomas on cardiac valves. This clinical picture mainly fits
the classic type I disease. Some other subtypes, which are even more
unusual, may present with ocular, neurologic, and bone marrow involvement.