Jansky-Bielschowsky disease

Introduction: Jansky-Bielschowsky disease

Description of Jansky-Bielschowsky disease

Jansky-Bielschowsky disease (medical condition): A rare inherited biochemical disorder involving the progressive accumulation of certain chemicals (lipopigments) in body tissues due to deficiency of an enzyme (protease tri-peptidyl-peptidase) needed to process it.

See also:

Ceroid lipofuscinosis, neuronal 2, late infantile type:
  »Introduction: Ceroid lipofuscinosis, neuronal 2, late infantile type
  »Symptoms of Ceroid lipofuscinosis, neuronal 2, late infantile type

Jansky-Bielschowsky disease: cerebral sphingolipidosis, early juvenile type.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.

Jansky-Bielschowsky disease: Related Topics

These medical condition or symptom topics may be relevant to medical information for Jansky-Bielschowsky disease:

• Bielschowsky disease
• Jansky
• Bielschowsky

Jansky-Bielschowsky disease: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Jansky-Bielschowsky disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Jansky-Bielschowsky disease, or a subtype of Jansky-Bielschowsky disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Jansky-Bielschowsky disease as a Disease

Jansky-Bielschowsky disease: Another name for Ceroid lipofuscinosis, neuronal 2, late infantile type (or close medical condition association).
  »Introduction: Ceroid lipofuscinosis, neuronal 2, late infantile type
  »Symptoms of Ceroid lipofuscinosis, neuronal 2, late infantile type

Symptoms of Jansky-Bielschowsky disease (Ceroid lipofuscinosis, neuronal 2, late infantile type)

Some of the symptoms of Jansky-Bielschowsky disease incude:

• Myoclonic seizures
• Atypical absences
• Tonic-clonic seizures
• Drop attacks
• Atonic attacks

See full list of 13 symptoms of Jansky-Bielschowsky disease (Ceroid lipofuscinosis, neuronal 2, late infantile type)

Jansky-Bielschowsky disease: Related Disease Topics

These medical disease topics may be related to Jansky-Bielschowsky disease:

• neurodegenrative disorder
• lysosomal storage disorder
• retinitis pigmentosa
• seizures
• psychological degeneration

Terms associated with Jansky-Bielschowsky disease:

Terms Similar to Jansky-Bielschowsky disease:

• Ceroid lipofuscinosis neuronal 2 late infantile
• Amaurotic idiocy early juvenile type
• Amaurotic idiocy late infantile type

Source: Diseases Database

• LINCL
• Neuronal ceroid lipofuscinosis, late infantile type
• Ceroid lipofuscinosis, neuronal 2, late infantile type
• Amaurotic idiocy, late infantile type
• CLN2

Source - NIH

External links related to: Jansky-Bielschowsky disease

• GeneReviews: Neuronal Ceroid-Lipofuscinosis
• Bielskowsky's amaurotic idiocy (www.whonamedit.com)
• Search Jablonski's Syndromes Database
• OMIM - CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2

Source: Diseases Database

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Medical dictionaries:

• Medical dictionary,
• Medical Acronymns/Abbreviations

More Medical Dictionary Topics

Kiliani-Fischer synthesis

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