About Ascher syndrome

What is Ascher syndrome?

Ascher syndrome is a rare neurological disorder characterized by the combination of spastic diplegia (a form of cerebral palsy) and oculomotor apraxia (a disorder of eye movement). It is caused by a mutation in the gene that codes for the protein kinase C gamma (PKCγ). Symptoms of Ascher syndrome include difficulty with eye movements, muscle spasms, and developmental delays.

What are the symptoms of Ascher syndrome?

The symptoms of Ascher Syndrome vary from person to person, but may include:

-Difficulty swallowing
-Choking episodes
-Gastroesophageal reflux
-Vomiting
-Poor weight gain
-Feeding difficulties
-Respiratory problems
-Coughing
-Wheezing
-Recurrent pneumonia
-Chronic lung disease
-Abnormal chest X-rays
-Abnormal heart sounds
-Heart murmurs
-Abnormal electrocardiogram (ECG)
-Abnormal blood pressure
-Abnormal liver function tests
-Abnormal kidney function tests
-Abnormal blood sugar levels
-Abnormal cholesterol levels
-Abnormal thyroid function tests
-Abnormal growth patterns
-Delayed development
-Delayed speech
-Delayed motor skills

What are the causes of Ascher syndrome?

Ascher syndrome is a rare neurological disorder caused by a mutation in the gene that codes for the enzyme alpha-galactosidase A (GLA). This enzyme is responsible for breaking down certain complex carbohydrates, such as those found in dairy products, legumes, and certain vegetables. When the enzyme is not functioning properly, these carbohydrates cannot be broken down and accumulate in the body, leading to a variety of symptoms.

What are the treatments for Ascher syndrome?

The treatment for Ascher Syndrome is primarily supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to help manage pain, spasticity, and other symptoms. Surgery may be recommended in some cases to help improve mobility and reduce pain. Other treatments may include orthotics, braces, and assistive devices to help with mobility.

What are the risk factors for Ascher syndrome?

The exact cause of Ascher Syndrome is unknown, but there are some risk factors that may increase the likelihood of developing the condition. These include:

• Being female
• Having a family history of Ascher Syndrome
• Having a history of recurrent ear infections
• Having a history of chronic sinusitis
• Having a history of allergies
• Having a history of asthma
• Having a history of eczema
• Having a history of recurrent upper respiratory infections
• Having a history of recurrent lower respiratory infections
• Having a history of recurrent bronchitis
• Having a history of recurrent pneumonia
• Having a history of recurrent tonsillitis
• Having a history of recurrent laryngitis
• Having a history of recurrent pharyngitis
• Having a history of recurrent otitis media
• Having a history of recurrent sin

Is there a cure/medications for Ascher syndrome?

There is no known cure for Ascher Syndrome. Treatment focuses on managing the symptoms, which may include medications to reduce muscle spasms, physical therapy to improve mobility, and occupational therapy to help with daily activities.