DISORDERS, SYMPTOMS AND PROGNOSIS

Tay-Sachs

Appear normal at birth. From 3-4 months progressive loss of neurological functioning. Typically fatal by age four

Cystic fibrosis

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

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

Canavan disease Normal appearance at birth. Progressive loss of neurological functioning, seizures. Typically fatal in second decade

Glycogen Storage Disease

Low sugar levels, enlarged liver/ kidneys, impaired growth. Early and ongoing intervention can enable normal lifespan

Fanconi anaemia type C

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

Niemann-Pick disease type A

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

Bloom syndrome Poor growth, increased sensitivity to sunlight, infections. Increased risk for cancer. Lifespan typically up to 30 years

Mucolipidosis IV Affects brain and nervous system, causing progressive developmental delay, low muscle tone. Shortened lifespan