GENETIC DISORDERS & THEIR SYMPTOMS

Below are some common symptoms of disorders covered by screening at the Jnetics Clinic, with their carrier frequencies in Ashkenazi Jews

TAY-SACHS DISEASE (1 in 25)

Appear normal at birth; from three to four months have progressive loss of neurological functioning. Typically fatal by age four.

CYSTIC FIBROSIS (1 in 25-29)

Thick mucus production in the lungs and digestive system, causing progressively severe breathing and digestive problems. Average lifespan is around 40 years.

FAMILIAL DYSAUTONOMIA (1 in 30)

Problems with nervous system functioning, causing difficulties in swallowing, regulating body temperature, pain sensitivity and blood pressure. Shortened lifespan.

CANAVAN DISEASE (1 in 40-57)

Appear normal at birth; progressive loss of neurological functioning; seizures. Typically fatal in second decade.

GLYCOGEN STORAGE DISEASE TYPE 1A (1 in 71)

Low sugar levels; enlarged liver/ kidneys; impaired growth. Normal lifespan with effective intervention.

FANCONI ANAEMIA TYPE C (1 in 89)

Anaemia, birth defects, short stature, fatigue, hearing loss and increased risk for cancer. Typically fatal around age 30.

NIEMANN-PICK DISEASE TYPE A (1 in 90)

Fat builds up in organs, brain and nervous system causing rapid neurological decline. Typically fatal by age two to five.

BLOOM SYNDROME (1 in 100)

Poor growth; increased sensitivity to sunlight; infections; increased risk for cancer. Lifespan typically up to 30 years.

MUCOLIPIDOSIS IV (1 in 100-125)

Affects brain and nervous system causing progressive developmental delay; low muscle tone. Shortened lifespan.