Bilschowsky-Jansky Disease

Bilschowsky-Jansky disease

Bielschowsky-Jansky disease is a rare hereditary disorder characterized by progressive spastic paraplegia, nystagmus, dysarthria and ataxia.

The disease is named after the German morphologist Max Bielschowsky and the Czech physician Jan Jansky, who independently described this disorder in the early 20th century.

The cause of the disease is mutations in the SPAST gene, which encodes the spastin protein. This protein plays an important role in the formation and function of axons. Mutations lead to disruption of axonal transport and death of nerve cells.

Clinical manifestations usually begin in childhood or adolescence. Characterized by progressive spastic paralysis of the legs, impaired coordination of movements, dysarthria.

Treatment is mainly symptomatic and aimed at improving motor functions. The prognosis depends on the severity of damage to the nervous system.

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> **Discovery story:**

Bielleschowsky-Jansky syndrome was discovered in 1930 by German chemist Otto Marín Müller, who studied biological reactions in the human spleen after death. Although the disease was initially considered non-existent, in the early 1950s it became known as Müller's disease - coarctation of the heart and constriction of the renal arteries. Over time, it began to bear the name of the Italian surgeon Giuseppe Biliński and the German surgeon From