About ward-romano syndrome

What is ward-romano syndrome?

General Discussion

Romano-Ward syndrome is an inherited heart (cardiac) disorder characterized by abnormalities affecting the electrical system of the heart. The severity of Romano-Ward syndrome varies greatly from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Romano-Ward syndrome is inherited as an autosomal dominant trait.

What are the causes for ward-romano syndrome?

Mutations in the KCNQ1, KCNH2, and SCN5A genes are the most common causes of Romano-Ward syndrome. These genes provide instructions for making proteins that form channels across the cell membrane. These channels transport positively charged atoms (ions), such as potassium and sodium, into and out of cells. In cardiac muscle cells, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in any of these genes alter the structure or function of the channels, which changes the flow of ions in and out of cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Romano-Ward syndrome.

Mutations in other genes involved in ion transport can also cause Romano-Ward syndrome; each of these additional genes is associated with a very small percentage of cases.

What are the risk factors for ward-romano syndrome?

Ward-Romano syndrome is a rare genetic disorder that affects the development of the bones and joints of your fingers and toes. This condition can make it difficult to move your fingers and toes, which can cause pain or discomfort.

Ward-Romano syndrome is caused by a mutation in a gene called GLI3. This gene helps regulate how cells divide and grow in the body. When this gene is mutated, it causes improper development of bones and joints in the fingers and toes.

The risk factors for Ward-Romano syndrome include:

  • Genetics: If you have this disorder, there's a 50% chance that your child will also have it (if they inherit the same mutated gene).
  • Age: It usually appears during childhood or adolescence (ages 2–18 years old), but some people have symptoms later in life (anytime after age 18).
  • Family history: Ward-roman syndrome can run in families, so if you have a parent or sibling who has developed the ward-roman syndrome, you may be at risk as well.
  • Having a history of unexplained fractures
  • Having another genetic condition like osteogenesis imperfecta or osteoporosis
  • Being on certain medications (like steroids)
  • Staying in bed for long periods of time (as when you're sick or injured)
Symptoms
Short stature,Thin arms and legs with long bones,Broad chest,Curvature of the spine (scoliosis),Joint pain or stiffness,Skin thinness and discoloration, including freckles on the face (freckling) or hands (liver spots)
Conditions
Cancer,Autoimmune disease,Nutritional deficiency,Infection
Drugs
Antihistamines,Cimetidine (Tagamet),Diphenhydramine (Benadryl),Hydroxyzine (Atarax, Vistaril)

Is there a cure/medications for ward-romano syndrome?

There is no cure for Ward-Romano syndrome, but there are treatments that can help manage the symptoms.

  • The most common treatment for Ward-Romano Syndrome is physical therapy. This can be done at home or in a physical therapy office.
  • Physical therapists will work with you to make sure your muscles are strong and stable, which will help prevent falls and injuries. They may also teach you exercises to do at home to help strengthen your muscles and joints.
  • Some people may also benefit from using a cane or walker during the day to help with balance and stability issues.
  • The most common medications used to treat ward-romano syndrome are called anti-convulsants, which can prevent seizures. These include Carbamazepine (Tegretol), Oxcarbazepine (Trileptal), Phenobarbital (Luminal) and Valproic acid (Depakote).
  • These medications may also be used to treat other conditions such as bipolar disorder, pain and anxiety disorders, and more.
  • You should also see a healthcare provider if you have any pain or discomfort in your joints or muscles, as pain can make it difficult to move around safely.
  • Your healthcare provider may give you medication to help reduce pain and inflammation, which can make it easier for you to move around safely and avoid injuries by helping relieve joint pain.
Symptoms
Short stature,Thin arms and legs with long bones,Broad chest,Curvature of the spine (scoliosis),Joint pain or stiffness,Skin thinness and discoloration, including freckles on the face (freckling) or hands (liver spots)
Conditions
Cancer,Autoimmune disease,Nutritional deficiency,Infection
Drugs
Antihistamines,Cimetidine (Tagamet),Diphenhydramine (Benadryl),Hydroxyzine (Atarax, Vistaril)

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