How Are FFI Jerks, Stiffness, and Walking Problems Treated?

Treatment for the motor symptoms of fatal familial insomnia (FFI)—which include myoclonus (sudden muscle jerks), muscle stiffness, and ataxia (walking and balance problems)—is focused on supportive and palliative care ^[1][2]. Because there is currently no proven disease-modifying treatment established to slow or stop the underlying progression of FFI ^[3], the goal of care is to maximize comfort, preserve dignity, and ensure safety. This involves a careful balance of neurologist-directed medications, rehabilitation therapies, mobility aids, and proactive caregiver support ^[4].

Distinguishing Myoclonus from Other Movements

Myoclonus refers to brief, shock-like involuntary muscle jerks ^[5]. To the naked eye, myoclonus can look very similar to epileptic seizures, tremors, or other movement disorders ^[5][6]. Making this distinction is important because the treatments differ.

While a bedside evaluation and caregiver videos are often highly informative, it can sometimes be difficult to pinpoint the cause of the movements ^[5]. Epileptic seizures are caused by abnormal bursts of electrical activity in the brain, but myoclonus in FFI frequently occurs without these specific brainwave patterns ^[2][6]. If the diagnosis remains uncertain and clarifying it would change the treatment plan, a neurologist might recommend a specialized test called video-EEG with multichannel EMG (which measures brainwaves and muscle activity simultaneously) ^[7]. However, this test is not always required, and treatment often focuses on relieving distress regardless of the exact electrical pattern ^[2].

Medication Management

Because FFI affects the brain so profoundly, the benefits and risks of any medication must be carefully balanced. The priority is to relieve distressing symptoms without causing unsafe levels of sedation or worsening balance.

• Symptom-Relief Medications: If myoclonus or stiffness is painful, severely disruptive to rest, or suspected to have an epileptic component, neurologists may try antiseizure medications (such as valproate or levetiracetam) or benzodiazepines (like clonazepam) ^[8][9]. However, evidence for their effectiveness in FFI is limited to case reports, and these are trials rather than standard cures; in some instances, these medicines provided only brief relief or no obvious benefit ^[10][8]. Medications for muscle stiffness must be started at very low doses because they can cause weakness, excessive sleepiness, and worsened breathing.
• Medicines to Monitor: Sedating drugs can worsen confusion, swallowing difficulties, and fall risk ^[4]. Additionally, certain medicines—including some used for mood or behavior—have been temporally associated with worsened rigidity and ataxia in patients with prion diseases, though it is not definitively proven that they cause these symptoms ^[11].
• Important Safety Warning: Never stop or abruptly change any prescribed medication (including psychiatric or antiseizure medicines) without consulting your prescribing doctor. Sudden withdrawal can be dangerous. Instead, ask your pharmacist or neurologist to regularly review your medication list to ensure every drug is still providing more benefit than harm.

Rehabilitation, Daily Support, and Safety

Physical and occupational therapy are highly valuable for adapting to rapid changes in mobility and ensuring comfort ^[4].

• Mobility and Transfers: Because FFI is progressive, many people eventually need increasing assistance with walking and transfers ^[12]. Therapists can recommend the right equipment at the right time—such as transitioning to specialized wheelchairs or mechanical lifts—whenever walking or transfers become unsafe ^[4].
• Fall Prevention and Positioning: Home safety assessments help families remove hazards to prevent serious falls ^[4]. Additionally, therapists and nurses can guide caregivers on proper positioning and skin care to prevent pressure injuries and joint contractures (permanent tightening of muscles) when the patient spends more time in bed.
• Caregiver Training: FFI places immense physical demands on caregivers ^[13]. Therapists teach safe lifting and transfer techniques to protect both the patient from discomfort and the caregiver from injury ^[13].
• Swallowing and Speech: As motor symptoms progress, swallowing problems (dysphagia) may arise. Speech-language pathologists can assess choking risks and recommend safe eating strategies or diet modifications ^[14].

Emergency Safety Guidance

Because symptoms can change rapidly, families should have an emergency plan. Seek urgent medical help if the patient experiences:

• A prolonged seizure-like episode (lasting more than 5 minutes) or repeated episodes without waking up in between.
• Complete loss of consciousness or inability to be awakened.
• Sudden, severe difficulty breathing, a blue/pale color change, or severe choking.
• A serious fall, especially if they hit their head.

Note: If a seizure or severe jerking episode occurs, do not attempt to restrain the person’s movements, and never put anything in their mouth.

The Role of Neuropalliative Care

“Palliative care” does not mean giving up or stopping treatment. Instead, neuropalliative care is a specialized medical approach that works alongside your neurologist from the time of diagnosis to manage complex physical and emotional symptoms ^[15]. Early involvement of an interdisciplinary palliative care team is strongly recommended in FFI ^[3]. They help coordinate home nursing, adjust medications for comfort, and support families in making difficult medical decisions that align with the patient’s personal values ^[15].