Jansky–Bielschowsky disease: Difference between revisions
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{{Infobox medical condition | |||
| name = Jansky–Bielschowsky disease | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Jansky–Bielschowsky disease is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = [[Late infantile neuronal ceroid lipofuscinosis]], [[CLN2 disease]] | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Seizures]], [[vision loss]], [[motor deterioration]], [[cognitive decline]] | |||
| onset = [[Childhood]] | |||
| duration = [[Progressive]] | |||
| causes = Mutations in the [[TPP1]] gene | |||
| risks = Family history of the disease | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other forms of [[neuronal ceroid lipofuscinosis]] | |||
| treatment = [[Symptomatic treatment]], [[enzyme replacement therapy]] | |||
| prognosis = [[Poor]] | |||
| frequency = Rare | |||
}} | |||
'''Jansky–Bielschowsky disease''' is a rare, neurodegenerative disorder characterized by progressive vision loss, intellectual disability, and motor dysfunction. It is a variant of [[Batten disease]], which is a group of disorders known as [[neuronal ceroid lipofuscinoses]] (NCLs). | '''Jansky–Bielschowsky disease''' is a rare, neurodegenerative disorder characterized by progressive vision loss, intellectual disability, and motor dysfunction. It is a variant of [[Batten disease]], which is a group of disorders known as [[neuronal ceroid lipofuscinoses]] (NCLs). | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Jansky–Bielschowsky disease typically begin between ages 5 and 10. The first signs of the disease are usually vision problems, including [[blindness]], due to degeneration of the [[retina]]. This is followed by intellectual disability, loss of motor skills, and seizures. | The symptoms of Jansky–Bielschowsky disease typically begin between ages 5 and 10. The first signs of the disease are usually vision problems, including [[blindness]], due to degeneration of the [[retina]]. This is followed by intellectual disability, loss of motor skills, and seizures. | ||
== Causes == | == Causes == | ||
Jansky–Bielschowsky disease is caused by mutations in the [[CLN3]] gene. This gene provides instructions for making a protein that is found in many tissues and organs, but its function is not well understood. Mutations in the CLN3 gene lead to a shortage (deficiency) of the CLN3 protein, which disrupts the normal functioning of cells, particularly cells in the brain and retina. | Jansky–Bielschowsky disease is caused by mutations in the [[CLN3]] gene. This gene provides instructions for making a protein that is found in many tissues and organs, but its function is not well understood. Mutations in the CLN3 gene lead to a shortage (deficiency) of the CLN3 protein, which disrupts the normal functioning of cells, particularly cells in the brain and retina. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Jansky–Bielschowsky disease is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests, urine tests, skin or tissue sampling, and detailed [[neurological]] and [[ophthalmological]] evaluations. | Diagnosis of Jansky–Bielschowsky disease is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests, urine tests, skin or tissue sampling, and detailed [[neurological]] and [[ophthalmological]] evaluations. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Jansky–Bielschowsky disease. Treatment is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of specialists, including pediatricians, neurologists, ophthalmologists, and other healthcare professionals. | There is currently no cure for Jansky–Bielschowsky disease. Treatment is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of specialists, including pediatricians, neurologists, ophthalmologists, and other healthcare professionals. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Jansky–Bielschowsky disease is poor. Most individuals with the disease live into their teens or early twenties. | The prognosis for individuals with Jansky–Bielschowsky disease is poor. Most individuals with the disease live into their teens or early twenties. | ||
== See also == | == See also == | ||
* [[Batten disease]] | * [[Batten disease]] | ||
* [[Neuronal ceroid lipofuscinoses]] | * [[Neuronal ceroid lipofuscinoses]] | ||
* [[CLN3]] | * [[CLN3]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Neurodegenerative disorders]] | [[Category:Neurodegenerative disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Childhood diseases]] | [[Category:Childhood diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:23, 6 April 2025
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| Jansky–Bielschowsky disease | |
|---|---|
| Error creating thumbnail: | |
| Synonyms | Late infantile neuronal ceroid lipofuscinosis, CLN2 disease |
| Pronounce | N/A |
| Specialty | Neurology, Genetics |
| Symptoms | Seizures, vision loss, motor deterioration, cognitive decline |
| Complications | N/A |
| Onset | Childhood |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutations in the TPP1 gene |
| Risks | Family history of the disease |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other forms of neuronal ceroid lipofuscinosis |
| Prevention | N/A |
| Treatment | Symptomatic treatment, enzyme replacement therapy |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | N/A |
Jansky–Bielschowsky disease is a rare, neurodegenerative disorder characterized by progressive vision loss, intellectual disability, and motor dysfunction. It is a variant of Batten disease, which is a group of disorders known as neuronal ceroid lipofuscinoses (NCLs).
Symptoms[edit]
The symptoms of Jansky–Bielschowsky disease typically begin between ages 5 and 10. The first signs of the disease are usually vision problems, including blindness, due to degeneration of the retina. This is followed by intellectual disability, loss of motor skills, and seizures.
Causes[edit]
Jansky–Bielschowsky disease is caused by mutations in the CLN3 gene. This gene provides instructions for making a protein that is found in many tissues and organs, but its function is not well understood. Mutations in the CLN3 gene lead to a shortage (deficiency) of the CLN3 protein, which disrupts the normal functioning of cells, particularly cells in the brain and retina.
Diagnosis[edit]
Diagnosis of Jansky–Bielschowsky disease is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests, urine tests, skin or tissue sampling, and detailed neurological and ophthalmological evaluations.
Treatment[edit]
There is currently no cure for Jansky–Bielschowsky disease. Treatment is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of specialists, including pediatricians, neurologists, ophthalmologists, and other healthcare professionals.
Prognosis[edit]
The prognosis for individuals with Jansky–Bielschowsky disease is poor. Most individuals with the disease live into their teens or early twenties.
