About Classic pantothenate kinase-associated neurodegeneration
What is Classic pantothenate kinase-associated neurodegeneration?
Classic pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder that affects the central nervous system. It is caused by mutations in the PANK2 gene, which encodes the enzyme pantothenate kinase 2. Symptoms of PKAN typically begin in early childhood and include dystonia (involuntary muscle contractions), rigidity, tremor, and difficulty walking. Other symptoms may include intellectual disability, seizures, and vision problems. PKAN is a progressive disorder, and there is currently no cure.
What are the symptoms of Classic pantothenate kinase-associated neurodegeneration?
The symptoms of Classic pantothenate kinase-associated neuroDegeneration (PKAN) vary from person to person, but typically include:
• Progressive difficulty with movement, including difficulty walking, speaking, and swallowing
• Abnormal eye movements, including rapid, jerky eye movements (nystagmus)
• Seizures
• Intellectual disability
• Abnormalities in the structure of the brain, including iron accumulation in certain areas
• Behavioral problems, including aggression, irritability, and impulsivity
• Sleep disturbances
• Vision problems, including decreased vision and sensitivity to light
• Hearing loss
• Speech problems, including slurred speech and difficulty forming words
What are the causes of Classic pantothenate kinase-associated neurodegeneration?
Classic pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder caused by mutations in the PANK2 gene. This gene provides instructions for making an enzyme called pantothenate kinase 2, which is involved in the production of coenzyme A (CoA). Mutations in the PANK2 gene lead to a deficiency of CoA, which disrupts the production of energy in cells and causes the signs and symptoms of PKAN.
What are the treatments for Classic pantothenate kinase-associated neurodegeneration?
1. Symptomatic treatment: This includes medications to help manage symptoms such as seizures, spasticity, and movement disorders.
2. Vitamin B5 supplementation: This is the main treatment for pantothenate kinase-associated neurodegeneration. Vitamin B5 (pantothenic acid) is given in high doses to help reduce the symptoms of the disorder.
3. Physical therapy: This can help improve muscle strength and coordination.
4. Occupational therapy: This can help improve daily functioning and quality of life.
5. Speech therapy: This can help improve communication skills.
6. Genetic counseling: This can help families understand the disorder and make informed decisions about their care.
What are the risk factors for Classic pantothenate kinase-associated neurodegeneration?
1. Genetic mutation: Classic pantothenate kinase-associated neurodegeneration is caused by a mutation in the PANK2 gene.
2. Age: The condition is most commonly diagnosed in childhood or adolescence, but can occur at any age.
3. Gender: Males are more likely to be affected than females.
4. Family history: A family history of the condition increases the risk of developing it.
5. Ethnicity: Classic pantothenate kinase-associated neurodegeneration is more common in people of Ashkenazi Jewish descent.
Is there a cure/medications for Classic pantothenate kinase-associated neurodegeneration?
At this time, there is no known cure for Classic pantothenate kinase-associated neurodegeneration (PKAN). However, there are medications that can help manage the symptoms of the condition. These include medications to help with movement, such as levodopa and carbidopa, as well as medications to help with sleep, anxiety, and depression. Additionally, physical and occupational therapy can help improve mobility and quality of life.