cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome is an extremely rare multi-system disorder that primarily affects the liver and the neurological system. The condition is caused by pathogenic variants in the SLC30A10 gene, which is critical for manganese regulation in the body. Individuals with this syndrome typically present with elevated manganese levels, liver cirrhosis, dystonia, and polycythemia. It is very rare, affecting fewer than 1 in 1,000,000 people, and usually follows an autosomal recessive inheritance pattern.

Patients with this syndrome characteristically exhibit hypermanganesemia, which is invariably present, along with dystonia and cirrhosis seen in the vast majority of cases. Additional features, such as hepatomegaly, sensorimotor neuropathy, and spastic paraparesis, are observed in some individuals. The clinical presentation can involve early neurological disturbances and liver-related symptoms that evolve over time. Not all individuals experience every feature, and severity varies considerably.

The condition is linked to mutations in the SLC30A10 gene, a key regulator of manganese transport and homeostasis. It is inherited in an autosomal recessive manner, meaning an individual must inherit two mutated copies of the gene—one from each parent—to develop the syndrome. This condition is more common when parents share a common ancestor, as both are more likely to carry the rare variant. Genetic counseling is recommended to help families understand the 25% recurrence risk for each pregnancy when both parents are carriers.

Currently, management focuses on supportive care and symptom management rather than on therapies specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team aimed at alleviating liver and neurological symptoms. Patients are encouraged to discuss treatment options with their healthcare team to determine which supportive measures and monitoring strategies are most suitable. Genetic counseling is also recommended as part of comprehensive care.

The clinical course of cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome is variable, with outcomes largely depending on the severity of liver and neurological involvement. While many patients manage their symptoms with careful supportive care and regular monitoring, some may experience progressive complications that require ongoing adjustments in management. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and expert centers to obtain guidance tailored to their situation.