Huntington's Disease
Comprehensive integrative medicine approach for lasting healing and complete recovery
Understanding Huntington's Disease
Huntington's disease is a rare, inherited neurodegenerative disorder caused by a mutation in the HTT gene that produces a toxic protein called huntingtin, leading to the progressive breakdown of nerve cells in the brain. It affects movement, cognition, and behavior, typically beginning between ages 30-50, with symptoms worsening over 10-20 years. While conventional medicine manages symptoms, functional medicine addresses mitochondrial dysfunction, neuroinflammation, oxidative stress, and metabolic imbalances to potentially slow progression and optimize quality of life.
Recognizing Huntington's Disease
Common symptoms and warning signs to look for
Involuntary jerking or writhing movements (chorea) in face, arms, or legs
Difficulty concentrating, planning, or organizing tasks
Irritability, depression, or personality changes appearing before movement issues
Unsteady gait and frequent stumbling or falling
Difficulty swallowing and unexplained weight loss
What a Healthy System Looks Like
In a healthy nervous system: (1) The huntingtin protein (HTT) functions normally in neuronal development, vesicle transport, and gene transcription regulation; (2) Striatal medium spiny neurons in the caudate and putamen maintain balanced dopamine signaling through D1 and D2 receptors, coordinating movement initiation and inhibition; (3) The cortico-striato-thalamo-cortical circuits enable smooth, coordinated voluntary movements through precise excitatory and inhibitory balance; (4) Mitochondria in neurons produce adequate ATP through oxidative phosphorylation, maintaining cellular energy demands; (5) The brain's antioxidant systems (glutathione, superoxide dismutase, catalase) neutralize reactive oxygen species; (6) Neurotransmitter systems (dopamine, GABA, glutamate, acetylcholine) maintain proper balance for movement, cognition, and emotion; (7) Cerebral blood flow delivers oxygen and glucose efficiently to support high metabolic demands of neurons.
How the Condition Develops
Understanding the biological mechanisms
Huntington's disease involves multiple interconnected pathological mechanisms: (1) CAG trinucleotide repeat expansion - the HTT gene contains >36 CAG repeats (normal <26), producing mutant huntingtin protein with an expanded polyglutamine tract; (2) Protein aggregation - mutant huntingtin forms intracellular inclusions and oligomers that disrupt cellular function, though smaller oligomers are more toxic than large aggregates; (3) Transcriptional dysregulation - mutant huntingtin interferes with transcription factors (CBP, Sp1, TAFII130), altering expression of neuroprotective genes including BDNF; (4) Mitochondrial dysfunction - impaired complex II-III activity reduces ATP production, increases reactive oxygen species, and triggers apoptosis; (5) Excitotoxicity - NMDA receptor hypersensitivity and impaired glutamate reuptake cause calcium overload and neuronal death; (6) Axonal transport disruption - mutant huntingtin blocks dynein/dynactin motor proteins, impairing vesicle and organelle transport; (7) Synaptic dysfunction - reduced synaptic connectivity precedes cell death, particularly in medium spiny neurons; (8) Neuroinflammation - activated microglia release pro-inflammatory cytokines (IL-6, TNF-alpha, IL-1beta) that accelerate neurodegeneration; (9) Selective neurodegeneration - earliest and most severe damage occurs in striatal GABAergic medium spiny neurons (caudate > putamen), later spreading to cortex.
Key Laboratory Markers
Important values for diagnosis and monitoring
| Test | Normal Range | Optimal | Significance |
|---|---|---|---|
| CAG Repeat Count (HTT Gene) | <26 repeats | <20 repeats | 26-35 repeats: intermediate allele (unstable in next generation); 36-39: reduced penetrance; >40: full penetrance Huntington's disease; longer repeats correlate with earlier onset |
| Lactate (CSF) | 1.1-2.4 mmol/L | <1.8 mmol/L | Elevated CSF lactate indicates mitochondrial dysfunction common in Huntington's; reflects impaired oxidative phosphorylation |
| 8-Hydroxy-2'-deoxyguanosine (8-OHdG) | <500 ng/mg creatinine | <300 ng/mg creatinine | Marker of oxidative DNA damage; elevated in Huntington's due to mitochondrial dysfunction and ROS production |
| Vitamin D (25-OH) | 30-100 ng/mL | 60-80 ng/mL | Low vitamin D associated with worse motor and cognitive outcomes; neuroprotective effects may slow progression |
| Homocysteine | 5-15 micromol/L | <8 micromol/L | Elevated homocysteine indicates methylation dysfunction and increases neurotoxicity; common in Huntington's patients |
| High-Sensitivity CRP | <3.0 mg/L | <0.5 mg/L | Chronic neuroinflammation accelerates neuronal death in Huntington's; elevated CRP indicates systemic inflammation |
| Ferritin | 30-400 ng/mL (men), 15-150 ng/mL (women) | 50-150 ng/mL | Iron dysregulation contributes to oxidative stress; both deficiency and excess problematic in neurodegeneration |
| Thyroid (TSH) | 0.4-4.0 mIU/L | 1.0-2.0 mIU/L | Thyroid dysfunction worsens metabolic symptoms and may accelerate cognitive decline; requires optimization |
| Fasting Insulin | 2.6-24.9 mIU/L | 4-8 mIU/L | Insulin resistance impairs brain glucose metabolism; metabolic dysfunction common in Huntington's |
| Hemoglobin A1c | 4.0-5.6% | 4.8-5.3% | Diabetes and insulin resistance accelerate neurodegeneration; glucose dysregulation worsens symptoms |
| Vitamin B12 | 200-900 pg/mL | 500-900 pg/mL | B12 deficiency causes neurological symptoms that compound Huntington's; essential for methylation and nerve function |
Root Causes We Address
The underlying factors contributing to your condition
{"cause":"HTT Gene CAG Repeat Expansion","contribution":"100% - Autosomal dominant inheritance; expanded CAG trinucleotide repeat in HTT gene on chromosome 4p16.3 produces mutant huntingtin protein","assessment":"Genetic testing for CAG repeat length; >36 repeats confirms diagnosis; family history assessment; pre-symptomatic testing available"}
{"cause":"Mitochondrial Dysfunction","contribution":"80% - Complex II-III inhibition reduces ATP production; impaired calcium buffering; increased ROS generation","assessment":"CSF lactate levels; muscle biopsy for mitochondrial function; serum lactate/pyruvate ratio; urinary organic acids"}
{"cause":"Oxidative Stress","contribution":"75% - Mutant huntingtin impairs antioxidant defenses; mitochondrial dysfunction generates ROS; lipid peroxidation damages membranes","assessment":"8-OHdG (oxidative DNA damage marker); lipid peroxidation markers; glutathione levels; superoxide dismutase activity"}
{"cause":"Excitotoxicity","contribution":"70% - NMDA receptor hypersensitivity; impaired glutamate reuptake; intracellular calcium overload triggers apoptosis","assessment":"Clinical assessment; glutamate levels if available; response to glutamate-modulating therapies"}
{"cause":"Neuroinflammation","contribution":"65% - Microglial activation; elevated pro-inflammatory cytokines; astrocyte dysfunction; perpetuates neuronal damage","assessment":"CRP, IL-6, TNF-alpha; neuroimaging for microglial activation (if available); clinical signs of inflammation"}
{"cause":"Transcriptional Dysregulation","contribution":"85% - Mutant huntingtin sequesters transcription factors; reduced BDNF expression; altered gene expression patterns","assessment":"BDNF levels if available; clinical assessment of neurotrophic support; response to BDNF-enhancing interventions"}
{"cause":"Metabolic Dysfunction","contribution":"60% - Hypermetabolism causes weight loss; insulin resistance; glucose dysregulation; impaired brain energy metabolism","assessment":"Resting metabolic rate; fasting glucose and insulin; HbA1c; body composition analysis"}
{"cause":"Axonal Transport Disruption","contribution":"70% - Mutant huntingtin blocks motor proteins; impaired vesicle and organelle trafficking; reduced neurotrophic factor transport","assessment":"Clinical assessment of disease progression; neurophysiological studies; response to transport-enhancing interventions"}
{"cause":"Proteasome Dysfunction","contribution":"55% - Impaired protein clearance systems; accumulation of misfolded proteins; cellular stress response activation","assessment":"Clinical markers of protein aggregation; response to autophagy-enhancing interventions"}
Risks of Inaction
What happens if left untreated
{"complication":"Progressive Motor Disability","timeline":"5-10 years from onset","impact":"Chorea progresses to severe movement disorder; loss of voluntary movement control; inability to perform activities of daily living; total dependence on caregivers"}
{"complication":"Severe Dementia","timeline":"8-15 years from onset","impact":"Progressive cognitive decline to severe dementia; loss of decision-making capacity; inability to recognize family; complete loss of independence"}
{"complication":"Aspiration Pneumonia","timeline":"Progressive","impact":"Dysphagia leads to aspiration; leading cause of death in Huntington's; recurrent pneumonias; respiratory failure"}
{"complication":"Severe Weight Loss and Cachexia","timeline":"Ongoing","impact":"Hypermetabolism and dysphagia cause severe malnutrition; muscle wasting; weakness; increased infection susceptibility; reduced survival"}
{"complication":"Suicide","timeline":"Highest risk around diagnosis and early stages","impact":"Suicide rate 4-6x higher than general population; depression, hopelessness, and cognitive impairment contribute; requires vigilant psychiatric monitoring"}
{"complication":"Falls and Injuries","timeline":"Throughout disease course","impact":"Chorea and balance impairment cause frequent falls; fractures, head injuries; accelerated functional decline; increased mortality"}
{"complication":"Loss of Communication Ability","timeline":"5-10 years from onset","impact":"Dysarthria progresses to inability to speak; isolation; difficulty expressing needs; reduced quality of life"}
{"complication":"Institutionalization","timeline":"Typically 10-15 years from onset","impact":"Inability to live at home; nursing facility placement; enormous financial burden ($50,000-100,000+ annually); emotional toll on family"}
{"complication":"Reduced Life Expectancy","timeline":"15-20 years from onset (adult); 10-15 years (juvenile)","impact":"Average survival 15-20 years after symptom onset; juvenile onset has faster progression; death from complications (aspiration, infections, falls)"}
How We Diagnose
Comprehensive assessment methods we use
{"test":"Genetic Testing (HTT Gene)","purpose":"Confirm diagnosis and determine CAG repeat length","whatItShows":"CAG trinucleotide repeat expansion in HTT gene; >36 repeats confirms HD; repeat length correlates with age of onset; identifies carriers before symptoms"}
{"test":"Brain MRI","purpose":"Assess striatal atrophy and rule out other conditions","whatItShows":"Caudate and putamen atrophy (earliest changes); enlarged frontal horns of lateral ventricles (boxcar ventricles); cortical atrophy in later stages; excludes other causes of chorea"}
{"test":"Neurological Examination (UHDRS)","purpose":"Quantify motor, cognitive, and behavioral symptoms","whatItShows":"Unified Huntington's Disease Rating Scale scores: motor assessment, cognitive testing, behavioral evaluation, functional capacity; tracks progression over time"}
{"test":"Psychiatric Evaluation","purpose":"Assess depression, anxiety, and behavioral symptoms","whatItShows":"Standardized scales (HAM-D, HAM-A); suicide risk assessment; cognitive-behavioral screening; treatment planning for psychiatric symptoms"}
{"test":"Comprehensive Metabolic Panel","purpose":"Identify metabolic dysfunction and nutritional status","whatItShows":"Glucose, insulin, HbA1c for metabolic function; liver and kidney function; electrolytes; weight loss assessment"}
{"test":"Nutritional Assessment","purpose":"Evaluate malnutrition and swallowing function","whatItShows":"Body mass index; caloric intake assessment; swallowing study (videofluoroscopy); speech therapy evaluation; dietitian consultation"}
{"test":"Sleep Study (Polysomnography)","purpose":"Identify sleep disorders","whatItShows":"Circadian rhythm disruption; REM sleep behavior disorder; sleep apnea; sleep fragmentation; guides sleep interventions"}
{"test":"Oxidative Stress Panel","purpose":"Assess oxidative damage and antioxidant status","whatItShows":"8-OHdG, lipid peroxidation markers, glutathione levels; guides antioxidant supplementation"}
{"test":"Inflammatory Marker Panel","purpose":"Quantify systemic and neuroinflammation","whatItShows":"CRP, IL-6, TNF-alpha, homocysteine; guides anti-inflammatory interventions"}
{"test":"Pre-symptomatic Genetic Testing","purpose":"Identify at-risk family members before symptoms","whatItShows":"CAG repeat length in asymptomatic at-risk individuals; genetic counseling essential; predictive of age of onset"}
Our Treatment Approach
How we help you overcome Huntington's Disease
Healers Clinic Huntington's Disease Management Protocol
Healers Clinic Huntington's Disease Management Protocol
Diet & Lifestyle
Recommendations for optimal recovery
Recovery Timeline
What to expect on your healing journey
{"initialImprovement":"Weeks 4-8: Psychiatric symptoms (depression, anxiety) begin to improve with treatment; sleep quality improves; nutritional status stabilizes; energy levels may improve with mitochondrial support; initial physical therapy benefits","significantChanges":"Months 3-6: Chorea may stabilize or improve with medication; functional capacity maintained or improved with therapy; weight stabilizes with nutritional intervention; cognitive strategies implemented; caregiver burden reduced with support systems","maintenancePhase":"Months 6-24+: Focus on maintaining function and quality of life; regular reassessment and adjustment of care plan; progression continues but complications managed; advanced care planning implemented; hospice care when appropriate"}
How We Measure Success
Outcomes that matter
UHDRS motor score stable or improved
Functional capacity maintained (UHDRS functional assessment)
Weight stable or increasing (reversing cachexia)
Psychiatric symptoms improved (HAM-D, HAM-A scores reduced)
Sleep quality improved
Fall frequency reduced
Swallowing function maintained
Cognitive function stable (neuropsychological testing)
Quality of life maintained or improved
Caregiver burden reduced
Inflammatory markers normalized (CRP <1.0)
Vitamin D in optimal range (60-80 ng/mL)
Oxidative stress markers reduced
Hospitalization frequency reduced
Aspiration events minimized
Patient and family satisfaction with care
Frequently Asked Questions
Common questions from patients
What is the difference between Huntington's disease and Huntington's chorea?
Huntington's chorea is the former name for Huntington's disease, emphasizing the involuntary dance-like movements (chorea) that are a hallmark symptom. The name was changed to Huntington's disease to better reflect that it is a comprehensive neurodegenerative disorder affecting not just movement, but also cognition, behavior, and emotion. Modern understanding recognizes the full spectrum of symptoms beyond just chorea.
Can Huntington's disease be cured or reversed?
Currently, there is no cure for Huntington's disease, and it cannot be reversed. However, comprehensive management can significantly improve quality of life and potentially slow progression. Treatment includes: medications for movement and psychiatric symptoms, physical/occupational/speech therapy, nutritional support, mitochondrial and antioxidant supplementation, and psychological support. Research into gene silencing therapies (antisense oligonucleotides) and other disease-modifying treatments is ongoing and shows promise.
How is Huntington's disease inherited?
Huntington's disease is inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disease. Each child of an affected parent has a 50% chance of inheriting the mutation. The condition is caused by a CAG trinucleotide repeat expansion in the HTT gene. Interestingly, there is a phenomenon called 'anticipation' where the disease often begins earlier in successive generations, particularly when inherited from the father, due to repeat expansion during spermatogenesis.
What is juvenile Huntington's disease?
Juvenile Huntington's disease (JHD) occurs when symptoms begin before age 20, accounting for approximately 5-10% of cases. It is typically associated with longer CAG repeat lengths (>60 repeats). JHD presents differently from adult-onset HD, with rigidity and bradykinesia (stiffness and slowness) more prominent than chorea, along with seizures, rapid cognitive decline, and faster disease progression. The Westphal variant is a form of JHD characterized by rigidity, seizures, and myoclonus.
Should family members of someone with Huntington's disease get tested?
Genetic testing for at-risk family members is a deeply personal decision that requires careful consideration and genetic counseling. Benefits include: knowing one's status for family planning, career planning, and early intervention if positive. Risks include: psychological impact of knowing, potential discrimination (though laws protect against this), and family dynamics changes. The international Huntington Association recommends comprehensive genetic counseling before and after testing. Testing is typically not recommended for minors unless symptomatic.
What is the life expectancy for someone with Huntington's disease?
Life expectancy after symptom onset averages 15-20 years for adult-onset Huntington's disease, though this varies considerably. Juvenile-onset HD typically has a faster progression with survival of 10-15 years. Death usually results from complications such as aspiration pneumonia, infections, falls, or cardiovascular issues rather than the disease itself. Early intervention, comprehensive care, and management of complications can improve both survival and quality of life. The length of CAG repeats correlates inversely with age of onset but not directly with disease duration.
Medical References
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- 7.7. Sturrock A, Leavitt BR. The clinical features of Huntington's disease. In: Bates GP, Tabrizi SJ, Jones L, eds. Huntington's Disease. 4th ed. Oxford University Press; 2014:40-68
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