SNP Shot: Genomic Insights

Dilated cardiomyopathy with ataxia (DCMA) syndrome is a genetic disorder characterized by a combination of heart issues, movement impairments, and other symptoms impacting various parts of the body.

Typically emerging in infancy or early childhood, dilated cardiomyopathy, a condition where the heart weakens and enlarges, hindering its ability to effectively pump blood, is common in individuals with DCMA syndrome. Some also experience long QT syndrome, a heart condition causing prolonged recharge time between heartbeats. This can lead to irregular heartbeats (arrhythmias), potentially causing fainting (syncope), cardiac arrest, or sudden death. While rare, some individuals see improvement in heart issues, most with DCMA syndrome don't survive past childhood due to heart failure. A small number of those with DCMA syndrome have no heart problems.

By the age of two, children with DCMA syndrome display coordination and balance difficulties (ataxia). These motor skill problems can delay milestones like standing and walking, but most older children with DCMA syndrome can walk independently.

Beyond heart problems and movement difficulties, most people with DCMA syndrome experience slowed growth, both before and after birth, resulting in short stature. Additionally, many have mild intellectual disabilities. Genital abnormalities are common in males with DCMA syndrome, including undescended testes (cryptorchidism) and hypospadias (urethra opening on the underside of the penis). Other frequently observed features include unusually small red blood cells (microcytic anemia), which can cause paleness; abnormal fat accumulation in the liver (hepatic steatosis), potentially leading to liver damage; and degeneration of the optic nerve (optic nerve atrophy), which can lead to vision loss.

DCMA syndrome is associated with elevated levels of 3-methylglutaconic acid in the urine. This acid level doesn't seem to correlate with the severity of the symptoms. DCMA syndrome falls under the category of 3-methylglutaconic aciduria, a group of metabolic disorders characterized by increased 3-methylglutaconic acid in urine. Individuals with DCMA syndrome also have elevated levels of 3-methylglutaric acid in their urine.

Inheritance:

DCMA syndrome follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must carry a mutation for the condition to manifest. The parents of an affected individual each carry one copy of the mutated gene but usually don't exhibit any symptoms of the disorder.