Kit Li
Case Summary: Parkinsonism with OPA1 Gene Mutation – Miss E (Age 54)
About a month ago, I was approached by Miss E, a 54-year-old female patient with a diagnosis of Parkinsonism associated with an OPA1 gene mutation (1), originally referred by Dr. TJ Wang. She received her initial treatment from Dr. Wang with notable improvement. However, due to the long travel distance to Dr. Wang’s clinic, she requested a home visit for her subsequent treatment sessions.
Miss E was diagnosed with Parkinsonism in 2018, initially presenting with hand tremors. Her condition has since gradually worsened. By 2022, she developed mobility impairments, and additional systemic symptoms have progressively appeared.
Presenting Symptoms:
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Motor Symptoms: Significant tremor in both hands and left foot, mobility impairment, pain in the right posterior thigh
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Non-Motor Symptoms: Visual deterioration (2), consistent with Parkinsonism-related optic dysfunction, tinnitus in the right ear (likely Parkinsonism-related and/or menopausal), menopausal syndrome, depressive symptoms
Aetiological:
The OPA1 gene encodes a mitochondrial protein vital for:
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Inner mitochondrial membrane fusion
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Cristae structural maintenance
OPA1 mutation results in mitochondrial dysfunction, especially impacting:
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Retinal ganglion cells – leading to optic atrophy
Neuromuscular tissue – resulting in ataxia, myopathy, neuropathy
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Cochlear cells – possibly contributing to hearing loss
TCM Diagnosis:
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Liver Wind with Liver -yang rising
Liver and Kidney yin-deficiency
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Spleen qi-deficiency with dampness accumulation in the Lower Jiao
Treatment Principles:
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Subdue Liver Yang and calm internal Wind
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Nourish Liver and Kidney Yin
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Strengthen Spleen Qi and eliminate dampness
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Primary Acupoints: LV-3, ST-36, ST-40, GB-34....etc.
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Scalp Acupuncture: Electric stimulation applied to Chorea-Tremor Area and a few key areas (30 minutes)
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Dao-Qi technique: Applied to selected body points to enhance Qi circulation
- Chinese Herbal Medicines: I prescribed a modified BuYangHuaWu Tang (补阳还五汤) (3) to invigorating Qi, promoting Blood Circulation, and removing Blood Stasis.
Treatment Response:
During the initial session, Miss E experienced a noticeable reduction in tremor (hands and left foot), and reported feeling calmer and more relaxed.(4) (5)
She expressed satisfaction with the results and has since continued with weekly treatments. To date, she has received three sessions, all of which have been well tolerated with continuing clinical benefit.
Next Steps:
Ongoing weekly treatments will continue with re-evaluation every 5 sessions to monitor sustained improvement, especially in tremor control, mobility, and mood. Additional support for menopausal and visual symptoms may be explored through adjunctive herbal or acupuncture approaches.
References:
1) Syndromic parkinsonism and dementia associated with OPA1 missense mutations
https://pubmed.ncbi.nlm.nih.gov/25820230/
2) Optic atrophy and parkinsonism in a family associated with OPA1 mutation
3) Modified Bu Yang Hua Wu Tang (补阳还五汤) has nine ingredients, such as Huang Qi (Astragalus root), Chuang Xiong (Szechuan lovage root), Chi Shao (Red peony root) and Dang Gui Wei (Tail of Angelica Root)....etc.
Chuang Xiong: https://pubmed.ncbi.nlm.nih.gov/39338320/
Chi Shao: https://pubmed.ncbi.nlm.nih.gov/24160233/
Dang Gui Wei: https://www.maxapress.com/data/article/mpb/preview/pdf/MPB-2023-0016.pdf
4) Effectiveness of Acupuncture in the Treatment of Parkinson's Disease: An Overview of Systematic Reviews
https://pmc.ncbi.nlm.nih.gov/articles/PMC7482669/
5) Effect of combined scalp and body acupuncture on Parkinson's disease: A randomized clinical trial:
https://www.sciencedirect.com/science/article/abs/pii/S1003525722000708