Dropped Head Syndrome: The Importance of Neurophysiology in Distinguishing Myasthenia Gravis from Parkinson’s Disease
Abstract
:1. Introduction
2. Detailed Case Description
3. Discussion
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Condition | Diagnosis | Clinical Signs | Notes | References |
---|---|---|---|---|
Dropped head syndrome | ||||
Myasthenia Gravis | EMG, Ach/mUSK antibodies | Dysphagia, dysphonia, weakness, fluctuating fatigue | Responds to pyridostigmine and plasmapheresis | [5,16] |
Motor Neuron Disease (ALS, PPS) * | EMG | Hyperreflexia, Babinski, weakness, fasciculations | Can have dysphonia and dysphagia | [3] |
Myopathy (PM, IBM, NM, MM, CD, FSHD, Radiation-induced, AED-induced carnitine deficiency) | Muscle biopsy | Weakness | LGMD, FSHD, IBM, other myositis, amyloid, thyroid myopathy, pay attention to epileptic patients taking valproic acid | [3,17] |
IGLON-5 Disease | IGLON-5 antibodies | Weakness, bulbar symptoms, sleep disorders | Tauopathy, rarely responds to immune therapy, severe prognosis | [18] |
Antecollis | ||||
Parkinson’s Disease | Clinical | Bradykinesia plus at least one between tremor, rigidity, postural instability | Responds to levodopa/carbidopa | [6] |
Multiple System Atrophy | Clinical | Dysautonomia, atypical Parkinsonism, cerebellar symptoms | More frequently displays antecollis than idiopathic PD | [7] |
Idiopathic Cervical Dystonia * | Clinical | Sensory trick | Responds to botulinum toxin injections in anterior neck muscle groups and anticholinergic drugs | [19] |
DPPX-Encephalopathy | DPPX antibodies | Weight loss, dysautonomia, GI symptoms | Responds to immune therapies | [20] |
Condition | Treatment | Notes |
---|---|---|
Dropped head syndrome | ||
Myasthenia Gravis | IVIG, PLEX, Steroids | May improve/resolve |
Motor Neuron Disease (ALS, PPS) | - | Consider neck brace, treat dysphagia if associated |
Myopathy (PM, IBM, NM, MM, CD, FSHD, Radiation-induced, and AED-induced carnitine deficiency) | Consider steroids in responsive forms; discontinue valproic acid in epileptic patients | Consider neck brace, physical therapy |
IGLON-5 Disease | IVIG, PLEX, Steroids | Weak response |
Antecollis | ||
Parkinson’s Disease | Discontinue dopamine-agonists or other recently added treatments; consider levodopa increase and muscle relaxants | Physical therapy, consider BoNT injections in anterior neck muscles |
Multiple System Atrophy | Same as Parkinson’s disease | - |
Idiopathic Cervical Dystonia | Consider BoNT injections in anterior neck muscles and anticholinergics | Effective, but increased risk of dysphagia |
DPPX-Encephalopathy | IVIG, PLEX, Steroids | May improve |
Treatment | Description | Mechanism of Action | Notes |
---|---|---|---|
Acetylcholinesterase inhibitors | Medications that improve communication between nerves and muscles | Inhibit breakdown of acetylcholine, increasing its availability at neuromuscular junctions | First-line treatment; includes pyridostigmine. May cause gastrointestinal side effects |
Corticosteroids | Anti-inflammatory drugs used to suppress immune response | Reduce autoantibody production and inflammation | Effective for moderate to severe MG; long-term use can cause significant side effects like osteoporosis and diabetes |
Immunosuppressants | Drugs that suppress the immune system to reduce autoantibody production | Target immune cells to decrease autoantibody levels | Include azathioprine, mycophenolate mofetil, and cyclosporine. Regular monitoring required due to risk of infection and other side effects |
Plasma exchange | Procedure aiming to remove antibodies from the blood. | Direct removal of circulating autoantibodies | Used in acute exacerbations or crisis situations. Short-term relief; risk of complications like infection or blood clots |
Intravenous immunoglobulins (IVIG) | Infusion of antibodies from donated blood to modulate the immune system | Provides normal antibodies to alter immune response and neutralize autoantibodies | Used in acute exacerbations or as maintenance therapy. High cost and risk of allergic reactions |
Thymectomy | Surgical removal of the thymus | Potentially reduces the production of autoantibodies by removing a source of abnormal immune response | May lead to remission or reduced medication requirement; most effective in patients with thymoma or early-onset MG |
Monoclonal antibodies | Targeted biologic therapy that specifically inhibits components of the immune system | Block specific immune pathways, such as complement activation or B-cell function | Include rituximab and eculizumab. Used in refractory cases; expensive and require careful monitoring |
Novel/experimental therapies | |||
- Efgartigimod | Neonatal Fc receptor (FcRn) antagonist | Reduces levels of pathogenic IgG antibodies | Demonstrates efficacy in clinical trials; may cause headache, upper respiratory infections |
- Rozanolixizumab | Humanized monoclonal antibody targeting the neonatal FcRn | Lowers circulating IgG autoantibodies by blocking FcRn | Under investigation; shown promising results in reducing symptoms. Infusion-related reactions possible |
Condition | RNS Findings | Clinical Features | Diagnostic Tests | Notes |
---|---|---|---|---|
Myasthenia Gravis (MG) | Decremental response in CMAP amplitude, often U-shaped | Fluctuating muscle weakness, fatigability, dysphagia, dysphonia | Acetylcholine receptor antibodies, SFEMG | High specificity with RNS; SFEMG for inconclusive cases |
Lambert-Eaton Myasthenic Syndrome (LEMS) | Incremental response in CMAP amplitude upon high-frequency stimulation | Proximal muscle weakness, autonomic dysfunction | Voltage-gated calcium channel antibodies | CMAP amplitude increases after exercise or high-frequency stimulation |
Amyotrophic Lateral Sclerosis (ALS) | Reduced CMAP amplitude, no decremental pattern | Progressive muscle weakness, atrophy, fasciculations | EMG, clinical examination | ALS affects both upper and lower motor neurons |
Botulism | Decremental response in CMAP amplitude, improvement with rapid RNS | Acute onset of muscle weakness, cranial nerve involvement | Toxin detection in serum, stool, or food | Requires prompt diagnosis and treatment |
Congenital Myasthenic Syndromes (CMS) | Decremental response in CMAP amplitude | Early onset muscle weakness, often with ocular involvement | Genetic testing, SFEMG | Genetic forms of neuromuscular junction disorders |
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Mangiardi, M.; Magliozzi, A.; Colosimo, C.; Marsili, L. Dropped Head Syndrome: The Importance of Neurophysiology in Distinguishing Myasthenia Gravis from Parkinson’s Disease. Biomedicines 2024, 12, 1833. https://doi.org/10.3390/biomedicines12081833
Mangiardi M, Magliozzi A, Colosimo C, Marsili L. Dropped Head Syndrome: The Importance of Neurophysiology in Distinguishing Myasthenia Gravis from Parkinson’s Disease. Biomedicines. 2024; 12(8):1833. https://doi.org/10.3390/biomedicines12081833
Chicago/Turabian StyleMangiardi, Marilena, Alessandro Magliozzi, Carlo Colosimo, and Luca Marsili. 2024. "Dropped Head Syndrome: The Importance of Neurophysiology in Distinguishing Myasthenia Gravis from Parkinson’s Disease" Biomedicines 12, no. 8: 1833. https://doi.org/10.3390/biomedicines12081833