HEMOPHILIA 

Hemophilia is a rare, inherited blood disorder that causes blood to clot less, which results in an increased risk of bleeding or bruising. Patients with severe hemophilia may develop life-threatening bleeding but are more likely to develop bleeding in their muscles and joints.

Source: Cleveland Clinic

HEMOPHILIA A

People who have Hemophilia A lack enough Factor VIII, a blood protein (clotting factor) that helps make blood clot. Normally, a gene called F8 carries instructions on how to create Factor VIII. Hemophilia A happens when that gene mutates and becomes an abnormal gene that makes a faulty version of Factor VIII or doesn’t make Factor VIII at all.

Source: Cleveland Clinic

HEMOPHILIA B

People with Hemophilia B have insufficient Factor IX, a blood clotting factor. While Hemophilia B is a serious medical condition, compared to Hemophilia A, patients have experience fewer hemathroses (bleeding into their joints), and fewer episodes of spontaneous bleeding.

Retinal dystrophies or inherited retinal diseases (IRD) are a group of degenerative disorders of the retina with clinical and genetic heterogeneity.[1] Common presentations include dimness of vision, color blindness, night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. 

Source: Cleveland Clinic

DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (DMD) is a condition that causes skeletal and heart muscle weakness that quickly gets worse with time. Symptoms usually begin by the age of 6 years, and the condition mainly affects children assigned male at birth. It is the most common form of muscular dystrophy.

Common symptoms include progressive muscle weakness, fatigue, frequent falls, developmental delay, breathing problems, delayed speech and language development, and scoliosis.

Source: Cleveland Clinic

SPINAL MUSCULAR ATROPHY

Spinal muscular dystrophy (SMA) is a genetic condition that cause certain muscles to weaken and waste away.

SMA involves the loss of a specific type of nerve cell in the spinal cord called lower motor neurons, or anterior horn cells. These cells control muscle movement. Without these motor neurons, muscles don’t receive the nerve signals that make them move.

Over time, children with SMA experience progressive muscle weakness and loss of muscle control. Potential complications include:

• Bone fractures, hip dislocation ad scoliosis
• Malnutrition and dehydration due to problems eating and swallowing
• Chest infections, like aspiration pneumonia, due to swallowing issues
• Weak lungs and breathing problems that may require breathing support (ventilation)

Source: Cleveland Clinic

RETINAL DYSTROPHY

Retinal dystrophies or inherited retinal diseases (IRD) are a group of degenerative disorders of the retina. Common symptoms include dimness of vision, color blindness, night blindness, peripheral vision abnormalities, and subsequent progression to complete blindness in progressive conditions. 

Source: NIH