About Matthew-Wood syndrome

What is Matthew-Wood syndrome?

Matthew-Wood syndrome is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. It is caused by a mutation in the gene encoding the enzyme phosphoglycerate mutase-1 (PGAM1). Symptoms of the disorder include intellectual disability, seizures, hypotonia, facial dysmorphism, and skeletal abnormalities.

What are the symptoms of Matthew-Wood syndrome?

The symptoms of Matthew-Wood syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Cleft lip or palate
-Abnormalities of the hands and feet
-Skin abnormalities
-Gastrointestinal problems
-Behavioral issues

What are the causes of Matthew-Wood syndrome?

Matthew-Wood syndrome is a rare genetic disorder caused by a mutation in the GATA2 gene. This gene is responsible for producing a protein that helps regulate the development of certain cells in the body. Mutations in this gene can lead to a variety of symptoms, including hearing loss, vision problems, skin abnormalities, and immune system deficiencies.

What are the treatments for Matthew-Wood syndrome?

The treatment for Matthew-Wood syndrome is primarily supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help control seizures, muscle relaxants, and anticonvulsants. In some cases, a feeding tube may be necessary to ensure adequate nutrition.

What are the risk factors for Matthew-Wood syndrome?

The primary risk factor for Matthew-Wood syndrome is a genetic mutation in the GATA2 gene. This gene mutation is usually inherited from a parent, although it can also occur spontaneously. Other risk factors include a family history of the disorder, a history of recurrent infections, and a history of autoimmune disorders.

Is there a cure/medications for Matthew-Wood syndrome?

At this time, there is no known cure for Matthew-Wood syndrome. However, there are medications that can be used to help manage the symptoms of the condition. These include medications to help control seizures, muscle spasms, and other neurological symptoms. Additionally, physical and occupational therapy can help improve mobility and quality of life.