Treatment Options and Day-to-Day Management

Living with VPS13A disease requires a focus on quality of life and safety, as there is currently no “disease-modifying” treatment that can stop the underlying progression ^[1]. Instead, care is symptomatic, meaning your medical team works to address each specific symptom as it arises through a multidisciplinary approach ^[2].

Managing Orolingual Dystonia and Biting

The forceful, involuntary biting of the tongue and cheeks is one of the most distressing features of the disease. While no single approach works for everyone, several options are used in practice:

• Botulinum Toxin: Injections (like Botox) into the jaw muscles (masseters and pterygoids) can help weaken the force of involuntary jaw-closing and biting ^[3]. These are often evaluated using EMG-guidance. However, botulinum toxin should be presented as an individualized specialist treatment with limited disease-specific evidence, carrying a risk of causing chewing, jaw, or swallowing weakness ^[4].
• Dental Protection: Specialized mouthguards or dental devices may be used to protect the tongue and cheeks from injury during episodes ^[5]. Any protective oral appliance must be custom-fitted and reviewed by an experienced dentist and swallowing clinician because a mouthguard can itself affect chewing or swallowing. (Safety Note: Never place a loose object, like a towel, in the mouth as a sensory trick, as this creates an immediate choking, aspiration, and airway-obstruction hazard).

Strategies for Swallowing and Nutrition

Because involuntary movements can cause food to be pushed out of the mouth or inhaled into the lungs (aspiration), managing dysphagia (swallowing difficulty) is a top priority ^[6].

• Dietary Changes: Texture, posture, bite size, pacing, and oral feeding decisions must be individualized by a speech-language pathologist, ideally after a clinical or instrumental swallow assessment (like a VFSS or FEES). Purees or thickened liquids are not universally safer and can sometimes cause residue or dehydration.
• Enteral Feeding: If weight loss becomes significant or if the risk of aspiration pneumonia is high, your team may discuss a PEG tube (a feeding tube placed through the abdomen) ^[7]. This is a shared-decision regarding your goals of care. A PEG can support nutrition and hydration, but it does not reliably prevent aspiration of saliva, secretions, or reflux, and does not eliminate aspiration pneumonia. Furthermore, tube feeding does not automatically mean all oral intake must stop, if deemed safe and desired ^[7].

Movement Control and Deep Brain Stimulation (DBS)

If chorea (irregular limb movements) or dystonia (stiff, twisting postures) becomes severe and does not respond well to medications, Deep Brain Stimulation (DBS) may be considered at an expert center ^[8].

• The Procedure: This involves surgically placing electrodes into a specific part of the brain (the globus pallidus interna or GPi) to regulate abnormal electrical signals ^[9].
• Expected Outcomes: While the evidence in this ultra-rare disease comes mostly from small case reports and series, some carefully selected patients with severe, medication-refractory symptoms see reductions in chorea and oromandibular dystonia ^[8][9]. However, DBS is not disease-modifying, carries surgical risks, and is not expected to improve progression, neuropathy, cognition, or swallowing. Speech problems (dysarthria) often do not improve with DBS and may sometimes even worsen slightly after surgery ^[8].

Seizure and Mobility Management

Seizures in VPS13A disease can be frequent or difficult to control, requiring individualized treatment with anti-epileptic drugs (AEDs) ^[10]. Because the disease can also cause peripheral neuropathy (nerve damage) and muscle wasting, keeping mobile is essential ^[10].

• Seizure Care: There is no “one-size-fits-all” medication. Doctors may use various AEDs (such as carbamazepine for some focal seizures) but the choice must be made by an epilepsy clinician according to your seizure type, EEG, and comorbidities, as some drugs can aggravate certain generalized syndromes ^[11]. Medications should not be started, stopped, or changed without your prescriber. It is vital to have a clear “rescue plan” for clusters of seizures ^[12].
• Physical and Occupational Therapy: Regular PT and OT are crucial for managing gait instability and preventing falls ^[2]. Therapists can also recommend assistive devices and home modifications to keep you safe as your mobility changes ^[13].