This website provides information on patients with mutations in the POLGgene, including clinical data, molecular data, management, and research options.
Syndromes caused by mutations in the POLGgene are multisystem disorders that can affect various organs and tissues in the body. The clinical features and severity of the disease can vary widely, depending on the type and location of the mutations and other factors.
Some of the common clinical features associated with POLG-related syndromes include:
Neurological symptoms: These can include developmental delays, seizures, ataxia (lack of muscle control), neuropathy, and cognitive impairment.
Muscle weakness and wasting:Patients may experience progressive external ophthalmoplegia (PEO), which is weakness of the eye muscles, as well as muscle weakness and wasting in the limbs and trunk.
Gastrointestinal symptoms:These can include dysphagia (difficulty swallowing), constipation, and liver dysfunction.
Endocrine dysfunction:Patients may develop diabetes mellitus, hypothyroidism, or adrenal insufficiency.
Hearing and vision loss:Patients may experience sensorineural hearing loss and retinal degeneration.
Cardiac abnormalities: Patients may develop cardiomyopathy or conduction defects.
In general, POLG-related syndromes are progressive and can be life-threatening, especially in early-onset cases. Early diagnosis and management are crucial for improving outcomes and quality of life for affected individuals.
Not all individuals with a mutation in the POLGgene have these features.
This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the POLGgene.
William C Copeland, PhD, National Institute of Environmental Health Sciences, National Institutes of Health, Durham, North Carolina, USA, copelan1@niehs.nih.gov