HSN Type I, also known as Hereditary Sensory Neuropathy Type I, refers to a specific genetic disorder that affects the peripheral nervous system. This condition is inherited in an autosomal dominant manner, meaning it can be passed down from one generation to another.
Individuals with HSN Type I experience a gradual deterioration of sensory nerves, leading to various symptoms primarily related to sensory dysfunction. This can include numbness, tingling, or a reduced ability to sense pain, temperature, and vibration. As the condition progresses, affected individuals may also develop muscle weakness, reduced muscle mass, and difficulty walking or performing daily activities.
HSN Type I is caused by mutations in the SPTLC1 or SPTLC2 genes, which encode enzymes involved in the synthesis of a fatty substance called sphingolipids. These mutations lead to an abnormal accumulation of certain sphingolipids that are toxic to nerve cells, ultimately resulting in the degeneration and loss of sensory nerves.
The diagnosis of HSN Type I is typically made through a combination of clinical evaluation, family history assessment, genetic testing, and nerve conduction studies. Unfortunately, there is currently no cure for this condition, and management primarily focuses on alleviating symptoms and preventing complications.
Overall, HSN Type I is a hereditary sensory neuropathy characterized by progressive sensory dysfunction and muscle weakness, caused by mutations in the SPTLC1 or SPTLC2 genes, and inherited in an autosomal dominant manner.
