Unmasking Huntington Disease: How a Neuropsychiatric Crisis Overcame Cultural Barriers to a Delayed Diagnosis

ABSTRACT

Huntington disease is an autosomal dominant neurodegenerative disorder characterized by progressive motor, cognitive, and psychiatric dysfunction. We report the case of a 53‐year‐old man who presented after a suicide attempt involving pesticide ingestion, following years of worsening choreiform movements, reported cognitive decline, and severe depression. Despite a strong multigenerational family history of similar symptoms, the condition was perceived as a familial “curse,” leading to a prolonged reliance on traditional remedies and delayed engagement with biomedical healthcare services. Examination revealed generalized chorea, dysarthria, motor impersistence, and severe depression. Genetic analysis identified 44 CAG repeats in the huntingtin (HTT) gene, confirming the diagnosis of Huntington disease. This case underscores the influence of cultural beliefs on healthcare‐seeking behavior, which can delay the diagnosis of hereditary neurological disorders until a psychiatric crisis precipitates medical evaluation and intervention.

Key Clinical Message

Huntington disease may remain undiagnosed for years when hereditary symptoms are attributed to cultural or spiritual causes. This case illustrates how a psychiatric crisis ultimately prompted medical attention, revealing a long‐overlooked genetic disorder and emphasizing the necessity of culturally sensitive exploration of symptoms and family history.

1. Introduction

Huntington disease is a progressive, autosomal dominant neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene. It is clinically characterized by a triad of motor dysfunction, cognitive decline, and psychiatric disturbance [1, 2]. Although chorea remains the most recognizable motor manifestation, neuropsychiatric symptoms are common and may precede or overshadow motor features during the course of the illness [1]. Individuals experiencing depression, irritability, apathy, and executive dysfunction often face significant challenges that greatly impact their morbidity and diminish their quality of life [3].

Huntington disease presents notable psychiatric symptoms, with a large number of patients experiencing depression, and suicide being a major mortality factor [3]. The incidence of suicidal thoughts and attempts is markedly elevated compared to that in the general population, especially during times of worsening functional abilities [3]. These findings highlight the critical need for early detection and comprehensive neuropsychiatric treatment in patients with Huntington disease.

Although molecular diagnostics have progressed, delayed diagnosis remains frequent, especially in areas with limited resources. In these regions, cultural beliefs and local explanations of illness significantly shape health‐seeking behaviors, affecting the interpretation and management of neurological and psychiatric symptoms. Often, these symptoms are perceived as having spiritual or supernatural origins, leading to postponed interactions with biomedical healthcare services and extended dependence on traditional or spiritual remedies [4, 5]. Such delays may contribute to disease progression, untreated psychiatric morbidity, and missed opportunities for timely intervention and counseling.

In sub‐Saharan Africa, these challenges may be compounded by limited access to specialist neurological services, socioeconomic constraints, and low awareness of hereditary and neurodegenerative disorders. The occurrence of symptoms within families, such as those observed in Huntington disease, might also strengthen culturally influenced perceptions of illness and affect how healthcare services are utilized.

We report a case of Huntington disease in a middle‐aged man whose eventual presentation for biomedical medical care was precipitated by a suicide attempt following years of progressive neurological and psychiatric symptoms attributed to a perceived familial “curse.” This case emphasizes the intricate relationship between cultural beliefs, healthcare‐seeking behavior, psychiatric conditions, and clinical genetics, highlighting the importance of culturally sensitive methods for identifying and managing hereditary neuropsychiatric disorders.

2. Case Presentation

We report the case of a 53‐year‐old man who presented to the Emergency Department of Our Lady of Grace Hospital, Ghana, approximately 2 h after a suicide attempt involving the intentional ingestion of a pesticide. The patient had a 10‐year history of progressively worsening involuntary, non‐rhythmic, jerky movements involving the entire body.

The patient, the first of eight siblings, had been well until approximately 10 years prior to presentation, when he developed subtle involuntary movements involving the face and upper limbs. Over time, these movements became progressively generalized and increasingly disabling, significantly impairing the activities of daily living.

A remarkable family history was elicited, with the patient's mother and two maternal relatives reportedly having experienced similar choreiform movement disorders (but not genetically confirmed) before their death. Additionally, four of his siblings were reported to have varying degrees of similar abnormal movements, with two developing psychotic symptoms (Figure 1). However, all the patient's children were asymptomatic at the time of presentation.

FIGURE 1.

Family pedigree. Patient's maternal grandmother married three men at different times. The offspring of her second marriage (one of whom was the patient's mother) all had choreiform movement disorder. The patient had seven siblings, four of whom had choreiform movement disorder too. All the patient's offspring were asymptomatic at the time of assessment with unknown genetic status. Circles = females, Squares = males, P = proband (genetically confirmed Huntington disease). Plain circles and squares = living relatives unaffected by choreiform movements. Dark circles and squares = living relatives currently affected by choreiform movements (but not genetically confirmed). Plain circles and squares with a slash = deceased relatives who were unaffected by choreiform movements while alive. Dark circles and squares with a slash = deceased relatives who were affected by choreiform movements while alive (but not genetically confirmed). HD+ = Genetically confirmed Huntington disease.

For a long time, both the family and the local community viewed the illness as a “curse” that ran in the family, which significantly influenced the patient's healthcare decisions. This belief led him to rely heavily on traditional healing methods for approximately 4 years, although he experienced no improvement. Afterward, he spent 6 years mostly confined to his home, unemployed, socially isolated, and increasingly dependent on his wife for daily needs.

Over the preceding 2 years, the patient developed persistent low mood, hopelessness, insomnia, and progressive social withdrawal, accompanied by worsening functional decline and reported cognitive decline (such as challenges managing his finances). Despite these symptoms, no formal medical evaluation was performed. The eventual suicide attempt, which involved the ingestion of a pesticide, occurred amid worsening psychological distress and severe functional dependence. This ultimately led to a hospital visit for care.

At presentation, he reported four episodes of vomiting and abdominal pain without dysphagia, chest pain, respiratory distress, or features suggestive of acute cholinergic crisis.

He had no known medical conditions and was not on regular medication. He was a farmer with no history of alcohol consumption or tobacco use.

On examination, the patient was conscious and oriented to time, place, and person. The vital signs were stable. There were no ocular findings suggestive of Kayser–Fleischer rings.

Neurological examination revealed generalized choreiform movements involving the face, trunk, and all extremities, which were associated with dysarthria. Muscle power was globally preserved (Medical Research Council Grade 5/5), although tone was increased with mild‐to‐moderate rigidity in all limbs. Motor impersistence was demonstrated by the inability to sustain tongue protrusion and hand grip. The deep tendon reflexes were brisk, with clonus and bilateral extensor plantar responses. The gait was bradykinetic and unsteady.

The mental state examination revealed a depressed affect, and he scored 21 on the Patient Health Questionnaire‐9 (PHQ‐9), consistent with severe depression. Following the suicide attempt, the patient received appropriate psychiatric management, including inpatient psychiatric monitoring, risk assessment and medication. At the time of assessment, suicidal ideation, intent, or planning was absent.

2.1. Differential Diagnosis, Investigations, and Treatment

An initial diagnosis of suicide attempt secondary to severe depressive illness in the setting of a chronic choreiform movement disorder was made. A neurodegenerative etiology was strongly suspected, with Huntington disease being the most likely diagnosis.

Although Wilson disease was considered a differential diagnosis, biochemical testing could not be performed due to resource limitations. The absence of Kayser–Fleischer rings and hepatic involvement made Wilson disease less likely but did not definitively exclude the diagnosis.

Baseline investigations, including complete blood count, renal function tests, liver function tests, urinalysis, chest radiography, and abdominal ultrasound, were unremarkable. Genetic analysis of a peripheral blood sample was performed at Metropolis Healthcare Laboratory using PCR‐based CAG repeat sizing by fragment analysis with confirmatory triplet‐primed PCR (TP‐PCR). The analysis identified one abnormally expanded HTT allele containing 44 CAG repeats and one normal allele containing 17 CAG repeats, confirming Huntington disease. Following molecular confirmation of Huntington disease with identification of a pathogenic HTT expansion, Wilson disease became substantially less likely. Magnetic resonance imaging of the brain revealed atrophy of the caudate and putamen, along with mild generalized cerebral atrophy (Figure 2).

FIGURE 2.

(a, b) Axial T2‐weighted (a) and axial FLAIR (b) images of the brain show reduced volume of the caudate heads (red arrow) and putamen (yellow arrows). There is mild generalized brain atrophy. (c, d) Axial (c) and coronal (d) T2‐weighted MRI of the brain. Reduced frontal horn width to inter‐caudate distance ratio of 1.3 (c) [normal range: 2.2–2.6]. Atrophy of both caudate heads (d) associated with a mild box‐like configuration of both frontal horns (blue arrows). The frontal horn width‐to‐intercaudate distance ratio is a measure of caudate atrophy, calculated by dividing the maximum width of the frontal horns of the lateral ventricles by the distance between the heads of the caudate nuclei at the same axial level. A reduced ratio reflects caudate atrophy and supports the diagnosis of Huntington disease.

The patient was stabilized and managed collaboratively by the psychiatry team. He was initially kept nil by mouth for 24 h and commenced intravenous fluids. He was later started on fluoxetine 20 mg daily for depression. Given the presence of significant psychiatric symptoms alongside choreiform movements, risperidone 2 mg nocte was initiated for symptomatic management, with consideration of its potential benefits in addressing both behavioral symptoms and chorea. Although vesicular monoamine transporter 2 (VMAT2) inhibitors such as deutetrabenazine represent an evidence‐based option for chorea, their use requires careful consideration in patients with significant depression or recent suicidality; limited availability and cost were additional considerations in this setting. The patient was monitored for potential adverse effects, including worsening rigidity, bradykinesia, sedation, and other extrapyramidal symptoms.

2.2. Outcome, Follow‐Up and Clinical Timeline

He remained clinically stable throughout the admission period and was discharged on Day 15 with psychiatric and medical follow‐ups.

A final diagnosis of suicidal attempt secondary to severe depression complicating Huntington disease was made. The diagnosis was discussed with the patient. At the 6‐week follow‐up visit (after the initial 2‐week follow‐up visit), he was observed to have an improvement in the choreiform movements, reported a normal mood, and improved sleep and appetite with the absence of suicidal ideation (see Table 1 for clinical timeline). He also reported adherence to his medications with no adverse effects. With the permission of the patient, the medical and psychiatric teams later met with the patient and his family, including some of his siblings, during which the underlying condition of Huntington disease was explained and counseling provided. However, no predictive genetic information was disclosed, and no genetic testing was offered or performed without the informed consent of the individual family members and appropriate pre‐test genetic counseling.

TABLE 1.

Clinical timeline of disease course, diagnostic evaluation, and therapeutic interventions.

Time/Age	Clinical event	Key findings/management
Age 43	Symptom onset	Intermittent involuntary movements of the upper limbs and face.
Age 43–47	Traditional/Spiritual treatment	Received traditional/spiritual therapy for approximately 4 years without any improvement.
Age 48–53	Progressive functional decline	Increasing choreiform movements, difficulty with activities of daily living, loss of independence.
Age 51–53	Psychiatric symptoms	Depressive symptoms developed with progressive social withdrawal.
Age 53 Day 1 of admission	Suicide attempt	Hospital admission and psychiatric assessment. PHQ‐9 score: 21.
Age 53 Day 1 of admission	Medical/Psychiatric evaluation	Suspicion of Huntington disease based on history and physical examination.
Age 53 Day 3 of admission	Treatment initiated	Treatment of depression and symptomatic treatment of choreiform disorder commenced.
Age 53 Day 7 of admission	MRI of the head	Caudate atrophy, enlargement of the frontal horns of the lateral ventricles, mild generalized cerebral atrophy
Age 53 Day 14 of admission	Genetic confirmation	HTT pathogenic CAG repeat expansion identified.
Age 53 Day 15 of admission	Hospital discharge	Patient discharged from the hospital, psychiatric and medical follow‐up arranged.
Age 53 2‐week follow‐up visit	Clinical outcome	Patient reported improvement in mood, sleep, appetite and choreiform movements; encouraged to maintain adherence to medications.
Age 53 6‐week follow‐up visit	Clinical outcome	Further consolidation of improved mood symptoms, sleep, appetite and choreiform movements; treatment adherence maintained.

Note: The table summarizes the temporal sequence of symptom onset, neurological and psychiatric manifestations, diagnostic work‐up, therapeutic interventions and outcomes.

Abbreviations: CAG, cytosine–adenine–guanine trinucleotide repeat; HTT, Huntingtin gene; MRI, magnetic resonance imaging.

3. Discussion

Huntington disease is an autosomal dominant neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Although chorea is the classical motor manifestation, psychiatric features, including depression, irritability, apathy, and executive dysfunction, are frequently early and prominent and may precede motor symptoms by years [1].

Psychiatric morbidity is substantial in Huntington disease, with depression and other neuropsychiatric manifestations being common throughout the disease course. Suicidal behaviors represent an important clinical concern. Completed suicide occurs at a rate of 72 per 100,000 person‐years among gene‐expansion carriers, approximately nine times higher than in non‐carriers, while suicide attempts occur at rates of 306–375 per 100,000 person‐years, representing an approximately 10‐fold increased risk compared with non‐carriers [6]. The risk is particularly elevated in individuals experiencing functional decline, increasing disease awareness, and progressive loss of autonomy [7]. In the present case, the suicide attempt represented a critical clinical turning point, prompting biomedical evaluation and ultimately leading to recognition of the underlying neurodegenerative disorder. This case highlights the unique interaction between cultural beliefs, health‐seeking behavior, and clinical genetics.

Culture has been defined as a set of shared beliefs and socially transmitted ideologies about the world that are passed on from generation to generation [8, 9]. In many parts of sub‐Saharan Africa, diseases are perceived as ancestral curses, spiritual attacks, or supernatural tests rather than medical conditions [10]. Diseases may also be thought of as a malfunctioning of the body system, which is probably due to a lack of harmony with supernatural/ancestral forces [11]. Such beliefs affect how diseases are experienced and treated [11]. Contact with biomedical healthcare services is therefore usually delayed as patients seek spiritual and cultural interpretations and solutions to their illnesses as their first option [10]. As an example of health‐seeking behavior among some Ghanaians, contact with biomedical healthcare services may be delayed for several years, as some may initially resort to self‐medication, traditional healers or herbalists, or perform rituals at prayer camps or religious centres, only seeking professional healthcare services when complications arise [10, 12, 13]. In Ghana and other African countries, initial reliance on traditional and spiritual care may partly be due to the perception that they are likely to obtain an absolute cure for their conditions rather than long‐term management [12]. In certain cases, the fear of receiving a dire diagnosis can lead to hesitancy in seeking help from biomedical healthcare services [14]. Such individuals may choose to find solace in religious or spiritual experiences rather than undergoing biomedical assessments [14].

Our patient's illness was interpreted within their own family's cultural explanatory model as an ancestral curse, which shaped illness perception and influenced healthcare‐related decision‐making. In this behavioral context, the genetic basis of the disorder was not acknowledged, even though there was a clear multigenerational pattern indicating autosomal dominant inheritance. Consequently, reliance on traditional and spiritual healing systems persisted for years, delaying engagement with biomedical healthcare services and postponing the recognition of the underlying neurodegenerative disorder. The identification of a pathogenic expansion in the HTT gene highlights the potential mismatch between biological causes and culturally shaped narratives of illness. This delay allowed progressive neurological and psychiatric manifestations to continue without intervention until a severe neuropsychiatric crisis emerged. The suicide attempt necessitated urgent medical attention, disrupting the existing explanatory model and triggering formal biomedical assessment, which led to recognition of the clinical phenotype and confirmation of Huntington disease. Thus, a major psychiatric complication paradoxically became the pathway through which a previously unrecognized inherited disorder was diagnosed.

In sub‐Saharan Africa, the pursuit of healthcare is influenced by a multifaceted combination of cultural beliefs, economic limitations, lack of access to biomedical services, unavailability of some specialty services and the presence of traditional/spiritual care systems [15]. Neurological and psychiatric symptoms are often understood through spiritual or non‐biomedical lenses, especially in cases where symptoms develop gradually and appear within families. These factors collectively contribute to delayed presentation, diagnostic uncertainty, and advanced disease at the time of first medical contact. Structural obstacles, including high medical expenses paid directly by individuals and significant distances to official healthcare facilities, frequently exacerbate cultural influences [15]. In the present case, diagnostic evaluation was further influenced by resource limitations. As an example, although Wilson disease was considered a differential diagnosis, an exhaustive diagnostic work‐up could not be carried out due to financial constraints. However, it was deemed less likely based on the clinical phenotype, age of onset, inheritance pattern, and absence of hepatic involvement [16]. The ultimate molecular diagnosis of Huntington disease in this case underscores the central role of genetic testing in resolving diagnostic uncertainty in neurodegenerative disorders, particularly in resource‐limited settings such as ours.

The management of Huntington disease remains primarily symptomatic and multidisciplinary. Dopamine‐depleting agents, including tetrabenazine and deutetrabenazine, are established therapies for the treatment of chorea, although their use may be limited by availability, cost, and monitoring requirements in resource‐constrained settings. Antipsychotic agents, such as risperidone, may be considered in patients with prominent psychiatric symptoms and may also provide benefit for chorea; however, their use requires monitoring for adverse effects, including extrapyramidal symptoms and sedation [17].

This case illustrates the interaction between clinical genetics, cultural beliefs, and healthcare‐seeking behavior in shaping diagnostic pathways. Although the HTT mutation was present throughout the disease course, culturally shaped interpretations of illness influenced healthcare decisions and delayed biomedical evaluation despite a strong familial pattern. The case highlights the importance of culturally sensitive approaches to neurological and psychiatric disorders, particularly in resource‐limited settings where diagnostic access may be constrained. It is, however, worth noting that at‐risk individuals or relatives should be offered genetic counseling, where the benefits, limitations, and psychosocial implications of predictive testing can be discussed. Decisions regarding predictive testing should be made voluntarily following informed consent and in accordance with established guidelines.

4. Conclusion

This case underscores the intricate relationship between genetics, cultural beliefs, and health‐seeking behavior in influencing diagnostic processes. Despite Huntington disease being characterized by a clear autosomal dominant inheritance pattern, cultural explanatory models can postpone the recognition of its genetic origins and delay interaction with biomedical healthcare systems. In this case, the key event was a decline in mental health that led to a suicide attempt, triggering biomedical evaluation and ultimately leading to the diagnosis. Early recognition of Huntington disease in at‐risk families, alongside culturally sensitive engagement strategies, is essential to reduce diagnostic delay, improve psychiatric outcomes, and facilitate timely genetic counseling and multidisciplinary care.

Author Contributions

Charles Donkor‐Baah: conceptualization, investigation, writing – original draft, writing – review and editing, supervision. Irene Acquah: investigation, writing – review and editing. Stephen Annan Arthur: investigation, writing – review and editing. George Harold Kitson‐Mills: investigation, writing – review and editing.

Funding

The authors have nothing to report.

Consent

Written informed consent for publication of this case report and any accompanying images was obtained after the patient had clinically stabilized from the acute psychiatric episode. At the time consent was obtained, the patient demonstrated decision‐making capacity, including an understanding of the purpose of publication, the information to be disclosed, and the potential implications of publication.

Conflicts of Interest

The authors declare no conflicts of interest.

Data Availability Statement

The data that support the findings of this study are available upon reasonable request from the corresponding author but are not publicly available due to privacy or ethical restrictions.