NEW LOWER PRICES - ACT FAST
Medicine (MD/DO)
/
Courses
/
Biochemistry
/
Lysosomal Storage Disorders
/
Tay-Sachs Disease

Master Tay-Sachs Disease with Picmonic for Medicine

With Picmonic, facts become pictures. We've taken what the science shows - image mnemonics work - but we've boosted the effectiveness by building and associating memorable characters, interesting audio stories, and built-in quizzing.

DOWNLOAD PDF
Tay-Sachs Disease

Recommended Picmonics

picmonic thumbnail
Niemann-Pick Disease
picmonic thumbnail
Hunter Syndrome
picmonic thumbnail
Hurler Syndrome
picmonic thumbnail
Fabry's Disease
picmonic thumbnail
Krabbe Disease

Tay-Sachs Disease

Taylor Sash
Picmonic
Tay Sachs Disease is caused by a genetic mutation in the Hexosaminidase A gene, which causes accumulation of GM2 ganglioside in cells. There is an increased disease prevalence in the Eastern European Ashkenazi Jewish population. On histologic exam, neurons are ballooned with cytoplasmic vacuoles due to markedly distended lysosomes filled with gangliosides, which resemble an onion skin appearance. On physical exam, a cherry red macula can be appreciated. The disease also causes progressive neurodegeneration due to accumulation of the GM2 ganglioside and patients display progressive deterioration of mental and physical abilities at around 6 months of age.
8 KEY FACTS
PATHOPHYSIOLOGY
Autosomal Recessive
Recessive-chocolate

Tay-Sachs Disease is inherited in an autosomal recessive modality. This means two copies of the abnormal gene must be present in order for the disease to develop.

Hexosaminidase A Deficiency
Broken Hexagon-mini-As

Hexosaminidase A (also known as beta hexosaminidase A or HEXA) is an enzyme which is severely deficient in Tay-Sachs. This enzyme is responsible for breaking down GM2 ganglioside.

Increased GM2 Ganglioside
Up-arrow GM (2) Tutu car with Gangster-on-side

This is the specific type of ganglioside that accumulates in Tay-Sachs.

More Common in Ashkenazi Jewish Population
Yarmulke (Yamaka)

There is increased disease prevalence in the Eastern European Ashkenazi Jewish population.

SIGNS AND SYMPTOMS
Cherry Red Spot on Macula
Cherry-eyes

On fundoscopic examination, a small red spot is seen in the center of the macula of the retina. It is caused by accumulation of GM2 ganglioside in the retina and the relative transparency of the macula. This is seen in several different lipid storage diseases.

Neurodegeneration
Degenerating-nerve-arm

Progressive deterioration of the central nervous system due to accumulation of GM2 ganglioside.

Developmental Delay
Developmental-bus

Progressive deterioration of mental and physical abilities is seen at around 6 months of age due to harmful quantities of gangliosides that accumulate in the brain's nerve cells, leading to premature cell death.

DIAGNOSIS
Onion Skin Lysosomes
Onion-head

On histologic exam, neurons are ballooned with cytoplasmic vacuoles that constitute a markedly distended lysosome filled with gangliosides. On electron microscope, several cytoplasmic inclusions make the appearance of an onion skin.

DOWNLOAD PDF

Take the Tay-Sachs Disease Quiz

Picmonic's rapid review multiple-choice quiz allows you to assess your knowledge.

It's worth every penny

Our Story Mnemonics Increase Mastery and Retention

Memorize facts with phonetic mnemonics

Unforgettable characters with concise but impactful videos (2-4 min each)

Memorize facts with phonetic mnemonics

Ace Your Medicine (MD/DO) Classes & Exams with Picmonic:

Over 1,870,000 students use Picmonic’s picture mnemonics to improve knowledge, retention, and exam performance.

Choose the #1 Medicine (MD/DO) student study app.

Picmonic for Medicine (MD/DO) covers information that is relevant to your entire Medicine (MD/DO) education. Whether you’re studying for your classes or getting ready to conquer the USMLE Step 1, USMLE Step 2 CK, COMLEX Level 1, or COMLEX Level 2, we’re here to help.

Works better than traditional Medicine (MD/DO) flashcards.

Research shows that students who use Picmonic see a 331% improvement in memory retention and a 50% improvement in test scores.