neuronal ceroid lipofuscinosis 10
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.
MONDO:0009744
neuronal ceroid lipofuscinosis 1
excluded_subClassOf
MONDO:0016295
neuronal ceroid lipofuscinosis
is_a
CLN10
exact
CLN10 disease, adult (subtype)
related
CLN10 disease, congenital (subtype)
related
CLN10 disease, juvenile (subtype)
related
CLN10 disease, late infantile (subtype)
related
CLN10-NCL
exact
CTSD neuronal ceroid lipofuscinosis
exact
ceroid lipofuscinosis neuronal Cathepsin D-deficient
related
ceroid lipofuscinosis, neuronal, 10
related
ceroid lipofuscinosis, neuronal, type 10
exact
neuronal ceroid lipofuscinosis caused by mutation in CTSD
exact
neuronal ceroid lipofuscinosis due to cathepsin D deficiency
exact
neuronal ceroid lipofuscinosis type 10
exact