/neuronal ceroid lipofuscinosis 10

neuronal ceroid lipofuscinosis 10

Rare Disease

MONDO:0012414

Also Known As

CLN10CLN10-NCLCTSD neuronal ceroid lipofuscinosisCathepsin D deficiencyceroid lipofuscinosis, neuronal, type 10neuronal ceroid lipofuscinosis cathepsin D-deficientneuronal ceroid lipofuscinosis caused by mutation in CTSDneuronal ceroid lipofuscinosis due to cathepsin D deficiencyneuronal ceroid lipofuscinosis type 10CLN10 diseaseCLN10 disease, adult (subtype)CLN10 disease, congenital (subtype)CLN10 disease, juvenile (subtype)CLN10 disease, late infantile (subtype)ceroid lipofuscinosis neuronal Cathepsin D-deficientceroid lipofuscinosis, neuronal, 10ceroid lipofuscinosis, neuronal, Cathepsin D-deficientneuronal ceroid lipofuscinosis due to Cathepsin D deficiencyneuronal ceroid lipofuscinosis, congenital

Definition

A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.