CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement that might seem like clumsiness, and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, speech problems, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
CLN5 disease is caused by mutations in the CLN5 gene, which provides instructions for making a protein whose function is not well understood. After the CLN5 protein is produced, it is transported to cell compartments called lysosomes, which digest and recycle different types of molecules. Research suggests that the CLN5 protein may play a role in the process by which lysosomes break down or recycle damaged or unneeded proteins within the cell.
The incidence of CLN5 disease is unknown; more than 85 cases have been described in the scientific literature. CLN5 disease was originally thought to affect only the Finnish population because they were the first individuals to be diagnosed with the condition. However, research has since shown that CLN5 disease affects populations worldwide. NCLs, including CLN5 disease, are still most common in Finland, where approximately 1 in 12,500 individuals are affected. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Forbes Porter is a Pediatrics specialist and a Medical Genetics doctor in Bethesda, Maryland. Dr. Porter is rated as an Advanced doctor by MediFind in the treatment of CLN5 Disease. He is also highly rated in 24 other conditions, according to our data. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and Acid Sphingomyelinase Deficiency (ASMD).
Andrea Gropman is a Pediatrics specialist and a Neurologist in Annapolis, Maryland. Dr. Gropman has been practicing medicine for over 31 years and is rated as an Experienced doctor by MediFind in the treatment of CLN5 Disease. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Urea Cycle Disorders (UCD), MELAS Syndrome, Inborn Amino Acid Metabolism Disorder, Pentasomy X, and Hormone Replacement Therapy (HRT). Dr. Gropman is currently accepting new patients.
Camilo Gutierrez is a Neurologist in Baltimore, Maryland. Dr. Gutierrez has been practicing medicine for over 18 years and is rated as an Experienced doctor by MediFind in the treatment of CLN5 Disease. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Seizures, Memory Loss, Partial Familial Epilepsy, and Partial Seizure. Dr. Gutierrez is currently accepting new patients.
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.
Published Date: February 03, 2021Published By: National Institutes of Health