autosomal dominant hypocalcemia 2

Autosomal dominant hypocalcemia 2 is a condition that primarily affects calcium regulation in the body, leading to consistently low blood calcium levels. It results from heterozygous mutations in the GNA11 gene, which plays a key role in calcium signaling. Most individuals present with hypocalcemia early in life, and additional features such as muscle spasms and paresthesia may also occur. Precise prevalence data is not available, so the condition is understood through its clinical presentation and genetic basis.

The hallmark feature of this condition is hypocalcemia, observed in all affected individuals. Other common symptoms include paresthesia and muscle spasms, which occur in a significant proportion of cases. A subset of individuals may also experience basal ganglia calcification or postnatal growth retardation, with these less frequent features reported in about 5 to 29% of cases. Not all individuals experience every symptom, and the severity and range of manifestations vary considerably.

Autosomal dominant hypocalcemia 2 is caused by heterozygous mutations in the GNA11 gene. This gene encodes a protein that is integral to the regulation of calcium signaling in the body. Since the condition follows an autosomal dominant inheritance pattern, a mutation in just one copy of GNA11 is sufficient to disturb calcium homeostasis and cause the disorder. Given the inheritance pattern, each child of an affected individual has a 50% chance of inheriting the mutation, and genetic counseling is recommended to discuss family planning options.

Currently, management focuses on supportive care and symptom management rather than a specific targeted therapy. Treatment is tailored to the individual and typically involves a multidisciplinary team to address issues such as low calcium levels and muscle spasms. As there are no FDA-approved treatments specifically for this condition, patients are encouraged to discuss various management options with their healthcare team, and genetic counseling is recommended to help families understand the implications of the condition.

Outcomes in autosomal dominant hypocalcemia 2 vary depending on the severity of symptoms, the age at which the diagnosis is made, and access to specialized care. With current standards of care, many individuals are able to manage their symptoms effectively throughout life. The clinical spectrum ranges from mild to more severe manifestations, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and specialists familiar with this condition for ongoing support and guidance.

Clinical trials are underway exploring new treatment approaches for managing the symptoms of autosomal dominant hypocalcemia 2. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility criteria.