Managing Symptoms and Coordinating Care

Because there is currently no cure for MPAN, the goal of treatment is to manage symptoms, maintain independence, and provide the best possible quality of life. This is achieved through multidisciplinary care—a “team approach” where different specialists work together to address the physical, emotional, and practical challenges of the disease ^[1][2].

Building Your Care Team

An effective care team is tailored to your specific symptoms. You do not need every specialist at once, but establishing a baseline with the following professionals is common:

• Neurologist: Often a specialist in movement disorders or neurogenetics, they manage medications for stiffness and tremors ^[3].
• Physical Therapist (PT): Focuses on mobility, balance, and strengthening. Small studies suggest targeted exercises can help maintain independence ^[4].
• Occupational Therapist (OT): Helps with activities of daily living, like dressing or using a computer, and recommends assistive devices.
• Speech-Language Pathologist (SLP): Essential for managing dysarthria (speech) and dysphagia (swallowing) ^[5].
• Ophthalmologist: Monitors for optic atrophy and provides support for vision loss ^[6].
• Mental Health Professional: A psychologist or psychiatrist can help manage anxiety, depression, or cognitive changes ^[7].

Managing Movement Symptoms

Treatment for movement challenges in MPAN is individualized. What works for one person may not work for another.

Spasticity and Dystonia

For the muscle stiffness (spasticity) and involuntary contractions (dystonia) that are common in patients, doctors may use:

• Oral Medications: Muscle relaxants are often the first step, though they can cause sleepiness ^[2].
• Botulinum Toxin: In some NBIA cases, “Botox” injections into specific muscles can help reduce stiffness, relieve pain, and prevent contractures (permanent muscle shortening). Depending on where it is injected, side effects can include temporary weakness or worsening swallowing ^[8].
• Therapy: Daily stretching and the use of braces (orthotics) can help keep joints flexible, but these must be individualized by a qualified PT or orthotist to avoid pain, skin injury, or falls ^[4].

Parkinsonism and Levodopa

Some patients develop parkinsonism (tremors and slowed movement). Doctors may try a medication called levodopa ^[9].

• The Benefit: It may improve movement in some individuals.
• The Risk: In MPAN, levodopa can sometimes cause choreiform dyskinesia—involuntary, dance-like movements that can be as bothersome as the original symptoms. Other possible side effects include nausea, sleepiness, hallucinations, and low blood pressure ^[9]. Monitoring for these side effects is a key part of any trial.

Experimental and Investigational Treatments

You may hear about treatments like deferiprone, elamipretide, or antioxidants. It is important to understand that these are currently investigational for MPAN and not standard routine care. They should only be discussed with your specialist or within an approved clinical trial.

• Deferiprone (Iron Chelation): This drug aims to remove excess iron from the brain. While studied in other NBIA disorders, its effectiveness in MPAN is unproven (case reports are uncontrolled and conflicting). Importantly, deferiprone can cause agranulocytosis (a severe, life-threatening drop in white blood cells) and liver abnormalities, requiring strict specialist prescribing and weekly monitoring ^[10][11]. Do not attempt iron chelation on your own.
• Elamipretide: This drug focuses on improving mitochondrial health. While one case report explored its use, it is an investigational drug that requires large clinical trials to confirm safety and efficacy ^[5].
• Antioxidants (like N-acetylcysteine): These have shown promise in “rescuing” damaged cells in a laboratory setting, but there is no evidence yet that they provide a clinical benefit to humans with MPAN ^[12]. Over-the-counter supplements can have adverse effects and interact with other medications.

Preparing for Your First Appointment

To make the most of your time with a new specialist, bring the following:

1. A copy of your genetic report showing the specific C19orf12 mutation.
2. Recent MRI images on a disc (not just the written report).
3. A “top three” list of the symptoms that affect your daily life most severely.
4. A list of all current medications and supplements, including doses.
5. A history of prior treatments and whether they helped or caused side effects.