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Medscape
5 hours ago
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Uncontrolled Movements, Anger, and Insomnia
Editor's Note: The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians, but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please email us at ccsuggestions@ with the subject line "Case Challenge Suggestion." We look forward to hearing from you. Background A 35-year-old man presents to the neurology clinic due to abnormal movements over the past 6 years. The involuntary movements began in the right upper limb, followed sequentially by the left upper limb, left lower limb, and finally the head and neck. The movements occur during wakefulness and are absent in sleep. They are described as jerky and nonpurposeful. His gait has assumed a dancelike character. He also has had behavioral changes that include frequent outbursts of anger, aggressive behavior, depressive mood, and insomnia. His abnormal movements are aggravated during outbursts of anger and disturbances in mood. He has no weakness in any limbs but is unable to perform regular household activities. Family members have also noted memory impairment. He has been unable to continue his work as a machine operator for the past 3 months. He has no history of psychoactive drug intake, including phenytoin, phenothiazines, haloperidol, L-dopa, lithium, isoniazid, amphetamines, tricyclic antidepressants, or any other relevant drugs. He reports no history of chest pain, breathlessness, or joint pain. His family history includes a paternal grandfather and father who had similar forms of abnormal movements and died at the age of 60 years and 55 years, respectively. The patient has five siblings (two brothers, three sisters). His elder brother died by suicide at age 25 years, and his elder sister died at age 33 years. Both had abnormal movements and abnormal behaviors. One of his younger sisters (age 22 years) also has similar abnormal movements and depressed attitude. His younger brother (age 17 years) and other younger sister (age 14 years) are healthy and symptom-free. The patient's children, an 8-year-old son and a 10-year-old daughter, are symptom-free. His past medical history is positive for hypertension, which is well controlled with lisinopril (20 mg daily). He has no surgical history. He does not smoke, drink, or use recreational drugs. Physical Examination and Workup A general examination reveals a pleasant man who is well built and in no acute distress. His blood pressure is 140/80 mm Hg, his heart rate is 78 beats/min, his respiratory rate is 12 breaths/min, his SpO 2 level is 98% on room air, and his body mass index (BMI) is 20. He is afebrile. A cardiovascular examination reveals normal peripheral pulses and normal heart findings. A chest examination reveals normal auscultation and expansion. His abdomen is soft. Head, eyes, ears, nose, and throat (HEENT) examination findings are unremarkable. He does not have a skin rash. A visual examination reveals normal acuity, field, and fundi. His affect is flat. A neurologic examination of the higher mental functions reveals that the patient is awake and alert, with normal orientation, attention, concentration, fund of knowledge, and language function. His memory is impaired, with recall one-third at 3 minutes. He has a normal past memory. His speech is normal. A cranial nerve examination reveals normal extraocular movements, increased blink rate, normal facial sensation, a symmetric face with abnormal fidgety movement, normal hearing, and normal palate movement. He has abnormal tongue movement and cannot protrude his tongue more than 20 seconds (darting tongue movement). He has normal shoulder shrug. No Kayser-Fleischer ring is noted during slit-lamp examination. An examination of the motor system reveals decreased muscle tone, normal bulk, and 5/5 strength in both upper and lower extremities. No atrophy or fasciculation is noted. Deep tendon reflexes are normal (2+ with flexor planters). Sensory examination findings are normal. Finger-nose test findings are normal. An examination of the extrapyramidal system reveals reduced tone and involuntary choreoathetoid movements that affect both upper and lower extremities as well as his face. He has a dancing gait. Diagnostic tests reveal normal complete blood cell count (CBC) and comprehensive metabolic panel findings. He has normal serum findings and urine copper levels. His erythrocyte sedimentation rate (ESR) is 22 mm/hr (reference range, 0-22 mm/hr). He has normal ECG findings, a normal thyroid-stimulating hormone (TSH) level, a normal transthoracic echo (with ejection fraction 65%), and normal chest radiography findings. Brain MRI can be used to evaluate for selective atrophy of deep gray structures, to document disease burden, and to provide a baseline for future comparison. Whole-body 18-FDG PET/CT may be used to screen for occult neoplasm and paraneoplastic chorea, but this is exceedingly rare and typically subacute. NMDA receptor antibody panel may be used to investigate for autoimmune encephalitic chorea, but the features of this (ie, seizures, psychosis, and autonomic instability) are absent in this case. RPR and FTA-ABS may be used to evaluate for neurosyphilitic chorea, but this is also very uncommon and unnecessary without risk factors or acute symptoms. In this patient, brain MRI reveals evidence of bilateral caudate atrophy, with increased intercaudate distance (Figure). Figure. Cerebrospinal fluid (CSF) examination findings are normal. Discussion This 35-year-old man has Huntington disease. He has insidious-onset, slowly progressive movement disorder, and movements are absent during sleep. His movements are described as choreoathetoid. He has family history that suggests autosomal dominant transmission. Apart from the movement disorder, he also has neuropsychiatric manifestations, with death at an early age in the family. A CT scan of the head revealed evidence of caudate nucleus atrophy. Brain MRI revealed evidence of caudate atrophy (Figure). Figure. In evaluating the differential diagnoses, the patient has no history of antipsychotic medication use to suggest tardive dyskinesia. He has no clinical or diagnostic evidence of infection or heart involvement, which makes Sydenham chorea unlikely. No acanthocytes were observed, helping to exclude neuroacanthocytosis. The strong family history of progressive abnormal movements and neuropsychiatric symptoms across generations supports a genetic etiology, specifically autosomal-dominant Huntington disease. Huntington disease is a rare neurodegenerative disorder of the central nervous system (CNS) characterized by choreiform movements, behavioral and psychiatric disturbances, and dementia.[1] Huntington disease is caused by an autosomal-dominantly inherited expansion of CAG trinucleotide repeats in the huntingtin ( HTT ) gene on chromosome 4; this leads to production of a mutant huntingtin (mHTT) protein, with an abnormally long polyglutamine repeat.[2] Individuals with more than 39 CAG repeats develop the disease, whereas reduced penetrance is seen in those with 36-39 CAG repeats. The disease can be anticipated when the gene is passed down the paternal line, as in this case; a father with a CAG repeat length in the intermediate range may have a child with an expanded pathogenic repeat length. This is because sperm from males shows greater repeat variability and larger repeat sizes than somatic tissues. Mutant huntingtin protein leads to death and neuronal dysfunction through various mechanisms. Postmortem studies reveal diffuse atrophy of the caudate and putamen. The progressive worsening of Huntington disease leads to a bedridden state with cognitive deterioration, and death typically occurs about 20 years after the onset of symptoms.[3] Prevalence in the white population is estimated at 1 in 10,000 to 1 in 20,000. The mean age at symptom onset is 30-50 years. In some cases, symptoms begin before age 20 years, with behavior disturbances and learning difficulties at school; this is termed juvenile Huntington disease (Westphal disease).[4] The first description, by Waters, dates to 1842. However, after a description in 1872 by George Huntington, it became known as Huntington chorea. In 1983, a linkage on chromosome 4 was established, and in 1993 the gene for Huntington disease was found.[1] Diagnosis of Huntington disease is confirmed by demonstration of autosomal dominant transmission or gene testing in the presence of clinical features.[5] The clinical features of Huntington disease consist of motor, cognitive, and neuropsychiatric manifestations. Huntington disease has a biphasic course of hyperkinetic phase with chorea in the early stages of disease that then plateaus into a hypokinetic phase, consisting of bradykinesia dystonia, balance issues, and gait disturbance. The younger-onset variant is associated with predominant bradykinesia.[6] Cognitive disturbance can be seen many years before other symptom onset and is characterized by impaired emotion recognition, processing speed, and executive function abnormality. Neuropsychiatric symptoms widely vary, including apathy, anxiety, irritability, depression, obsessive-compulsive behavior, and psychosis. A lack of awareness of early and progressing behavioral, cognitive, and motor symptoms is a hallmark of Huntington disease. This unawareness is caused by the disease itself (specifically, impaired insight or anosognosia) and is not the result of intentional denial, avoidance, or suppression of symptoms.[7] Therefore, a comprehensive history, including information from a knowledgeable family member/caregiver, is advisable.[7] Numerous conditions can mimic Huntington disease, including a spinal cerebellar ataxia 17, spinocerebellar ataxia 1-3, and Friedreich ataxia, which involve neuropathy. If seizures are also present, dentatorubropallidoluysian atrophy should be considered. Acanthocytes are seen in patients with neuroacanthocytosis.[8-10] Isolated chorea can be seen in acquired conditions, including chorea gravidarum, systemic lupus erythematosus, antiphospholipid syndrome, thyrotoxicosis, postinfectious syndromes, polycythemia vera, and some drug use. Genetic testing for the mHTT mutation can be either diagnostic or predictive.[6] A diagnostic test may be performed when a patient presents with typical motor features of Huntington disease. Prior to testing, the patient should be informed about Huntington disease and its hereditary nature, as a positive test result has implications for the patient and family. Predictive testing is performed in asymptomatic patients, mostly for reproductive reasons. Treatment of Huntington Disease The optimal management of Huntington disease involves a multidisciplinary approach that includes neurology, nurses, physical therapy, speech-language pathology, and dietitians and other healthcare professionals. The goal is to optimize the quality of life based on the changing need of the patient. These consist of combined pharmacologic and lifestyle changes, including behavioral therapy. Symptoms may be worsened by stress, fatigue, and intercurrent disorders (eg, anxiety, digestive disorders, infectious or painful conditions), so these aspects must be assessed and treated alongside the primary symptoms of Huntington disease.[3] In clinical practice, information about symptoms should be obtained from both the patient and caregivers, since patients may have impaired awareness of their condition.[11] Identifying coexisting psychiatric symptoms, comorbid medical conditions, and environmental factors is crucial.[11] Educating caregivers about the nature and presentation of symptoms and methods to modify triggers is also vital.[11] Medication choices should be guided by coexisting symptoms and disease stage, and regular reassessment of drug need and potential for dose reduction is important because of adverse effects that can mimic disease progression.[11] Nonpharmacologic interventions, including behavioral therapies and environmental modifications, should be prioritized for neuropsychiatric symptoms in Huntington disease. Pharmacologic agents may be considered if these measures are insufficient, and consultation with a psychiatrist knowledgeable in Huntington disease is recommended for individuals whose symptoms are resistant to standard pharmacologic therapy.[11] Tetrabenazine and its modified version, deutetrabenazine, are commonly used to treat choreiform movements. Side effects of tetrabenazine can include depression, anxiety, sedation, sleep problems, restlessness, and parkinsonism.[7] Citalopram is a selective serotonin reuptake inhibitor used to manage depression. Modafinil and atomoxetine are used to manage apathy. Tiapride, although unavailable in the United States, is considered a first-line treatment option for chorea outside the United States.[7] Other antipsychotics such as olanzapine, risperidone, and quetiapine are also used to manage chorea. Risperidone may also help with psychomotor restlessness, and olanzapine and quetiapine can have additional benefits like weight gain (which can be desirable in Huntington disease) and mood stabilization. Haloperidol has also shown effectiveness.[7] Medications used to suppress chorea (eg, tetrabenazine and deutetrabenazine and certain antipsychotics) should be used sparingly and mainly for subjectively disabling hyperkinesias, starting at low doses and titrating gradually. They make take 4-6 weeks to show results.[7] The choice of medication depends on the individual patient's symptoms, tolerability, and co-existing conditions.[7] Evidence regarding the treatment of psychiatric symptoms in Huntington disease is limited, with recommendations often based on expert opinion owing to a lack of robust controlled studies.[7,11] Nonpharmacologic interventions such as cognitive-behavioral therapy and psychodynamic therapy are recommended, especially for depression, anxiety, obsessive-compulsive behaviors, and irritability. Behavioral strategies (eg, structured routines and distraction) are important for managing irritability and agitation.[3,11] Depression: Selective serotonin reuptake inhibitors (SSRIs) such as citalopram, fluoxetine, paroxetine, sertraline, and venlafaxine are recommended as pharmacologic options. [3,7] Mianserin (unavailable in the United States) or mirtazapine are alternatives, particularly in patients with sleep disruption. [3,7,11] Electroconvulsive therapy (ECT) may be considered for severe or resistant cases, although it can significantly impair short-term memory. [3,7] Mianserin (unavailable in the United States) or mirtazapine are alternatives, particularly in patients with sleep disruption. Electroconvulsive therapy (ECT) may be considered for severe or resistant cases, although it can significantly impair short-term memory. Anxiety: SSRIs or serotonin-noradrenaline reuptake inhibitors (SNRIs) are first-line treatments, especially when anxiety coexists with depression. [3,11] Mirtazapine is an option in patients with sleep disorders. [11] Long-term use of benzodiazepines is generally discouraged for ambulatory individuals because of the risk of falls and dependence but can be used short-term or as needed. [3,11] Mirtazapine is an option in patients with sleep disorders. Long-term use of benzodiazepines is generally discouraged for ambulatory individuals because of the risk of falls and dependence but can be used short-term or as needed. Obsessive-compulsive behaviors/perseverations: For true obsessive-compulsive phenomena, SSRIs are considered first-line treatment. [3] Olanzapine and risperidone may also be valuable for ideational perseverations, particularly if associated with irritability. [3] Clomipramine is an option, especially if needed for coexisting obsessive perseverative behaviors. [11] Olanzapine and risperidone may also be valuable for ideational perseverations, particularly if associated with irritability. Clomipramine is an option, especially if needed for coexisting obsessive perseverative behaviors. Irritability and aggression: SSRIs are a first-line treatment. [3] For aggressive behavior, neuroleptics are recommended. [3,7] Mood stabilizers (eg, valproate, lamotrigine, lithium, carbamazepine) can be added if irritability is resistant to other treatments or for mood lability. Risperidone and olanzapine may help reduce irritability. [3,7] For aggressive behavior, neuroleptics are recommended. Mood stabilizers (eg, valproate, lamotrigine, lithium, carbamazepine) can be added if irritability is resistant to other treatments or for mood lability. Risperidone and olanzapine may help reduce irritability. Psychosis (hallucinations/delusions): Second-generation neuroleptics (antipsychotics) are the first-line pharmacologic treatment. [3,7,11] Options include olanzapine, risperidone, quetiapine, aripiprazole, and haloperidol. [7] Clozapine may be considered for severe or resistant cases, particularly in akinetic forms of Huntington disease but requires regular monitoring. [3,7,11] Underlying causes, such as the use of psychotropic agents or somatic triggers, should be investigated and addressed. [3,11] Options include olanzapine, risperidone, quetiapine, aripiprazole, and haloperidol. Clozapine may be considered for severe or resistant cases, particularly in akinetic forms of Huntington disease but requires regular monitoring. Underlying causes, such as the use of psychotropic agents or somatic triggers, should be investigated and addressed. Apathy: Personalized cognitive stimulation and structured routines and activities are recommended.[3,7,11] If depression is suspected as a contributor, an SSRI should be tried.[3,11] In patients without depression, activating antidepressants or stimulant drugs (eg, methylphenidate, atomoxetine, modafinil) may be considered.[11] Sedative medications may increase apathy, so their dosage should be monitored or reduced.[3,11] Currently, no pharmacological treatment is specifically recommended for cognitive symptoms in Huntington disease.[3,7] Rehabilitation strategies, including speech therapy, occupational therapy, cognitive and psychomotor therapy, may help transiently improve or stabilize cognitive functions.[3,7] Coping strategies can be useful as an alternative to medication. Certain medications, such as sedative drugs, neuroleptics, and tetrabenazine, can negatively affect memory, executive functions, and attention.[3] Apart from symptomatic treatment, pharmacologic agents have failed to show benefit in clinical trials as disease-modifying agents. The most promising approaches in regard to disease modification are emerging therapies aimed at lowering levels of mHTT by targeting either the DNA or RNA of the mHTT gene.[12] RNA-targeting using antisense oligonucleotides (ASOs) have shown disappointing results in clinical trials. This has shifted significant research focus and toward orally available small molecules that modify HTT mRNA splicing, thereby reducing mHTT protein production. DNA-targeting approaches using gene editing tools like CRISPR/Cas9, while demonstrating success in preclinical models, remain in the early stages of development.[13,14] The patient in this case was diagnosed with Huntington disease with CAG repeat 78. He was started on tetrabenazine for abnormal movements and citalopram for depression. He opted to apply for federal disability. His children are asymptomatic, and the family decided not to investigate until symptoms develop or they are age 18 years.
Yahoo
5 days ago
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Europe unveils a deal for more food and fuel for Gaza. Israeli strike kills 15 outside a clinic Solve the daily Crossword
Yahoo
5 days ago
- Sport
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Pitt soccer team works with nonprofit to host clinic for local kids
From competing on the national stage to giving back on their home field, the Pitt men's soccer team traded high-stakes matchups for high-fives Tuesday. The team hosted local kids for a free soccer clinic. 'I'm glad that they get to teach me that stuff on that type of level that I wouldn't really get an opportunity to do stuff like that anywhere else,' said 12-year-old camper Peyton Turner. The clinic was a collaboration between Pitt Athletics and Schenley Heights Community Development Program, a nonprofit that connects local kids to academic enrichment while out of school. At the very least, dribbling alongside some of the best players in the country makes for a pretty memorable day. 'I like how they shoot goals and do celebrations,' said 8-year-old Gabriel Clemons. 'It's actually kind of good. My favorite one is (Pitt defender) Casper (Svendby).' The connections made over drills are also kicking off bigger conversations. 'They've asked all kinds of questions, questions about college, questions about soccer, questions about countries,' said Alicia George, Executive Director for the SHCDP. 'All of these things are very important in every which way.' It's a fitting reason for the Pitt athletes to step back from the preseason grind. The pressure is on for the Panthers after last year's Elite Eight appearance. It was their sixth straight trip to the NCAA Tournament. It's a growing platform players like goaltender Jack Moxom want to use wisely. 'We know how much the community does for us and how much they support us, especially at our games,' he said. 'So, it's great to be able to give back and spend some time and have some fun with the kids.' Though the players are giving just a few hours of their time, George says it leaves a lasting impression. 'In times like these, when we're all struggling for funding, and we're all looking at how we make things happen, it is my prayer that the good people of the City of Pittsburgh recognize the communities, because it takes a whole village to keep our schools, to keep our education on par and more importantly, to produce young, beautiful children like the ones running right up to me right here.' Pitt athletes across the board are dedicating their summers to giving back. Just to name a few, the Pitt swimming and diving team offered free swim lessons in the Hill District this summer. The women's basketball team offered free tutoring in Homewood. Download the FREE WPXI News app for breaking news alerts. Follow Channel 11 News on Facebook and Twitter. | Watch WPXI NOW
Daily Mail
6 days ago
- Health
- Daily Mail
Lose 5 kilos in 4 weeks with this no-effort method that works for (almost) anyone: You could hardly call it a 'diet' at all - but my clients say it's a game-changer
When Nicole Conville stepped into my clinic, she looked frustrated. At 53, she'd always prided herself on eating a healthy diet and taking daily walks, but when she decided she wanted to lose the few extra kilos that had been bothering her, the scales stubbornly refused to budge.
Yahoo
6 days ago
- Health
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Do women really need more sleep than men? A sleep psychologist explains
If you spend any time in the wellness corners of TikTok or Instagram, you'll see claims women need one to two hours more sleep than men. But what does the research actually say? And how does this relate to what's going on in real life? As we'll see, who gets to sleep, and for how long, is a complex mix of biology, psychology and societal expectations. It also depends on how you measure sleep. What does the evidence say? Researchers usually measure sleep in two ways: by asking people how much they sleep (known as self-reporting). But people are surprisingly inaccurate at estimating how much sleep they get using objective tools, such as research-grade, wearable sleep trackers or the gold-standard polysomnography, which records brain waves, breathing and movement while you sleep during a sleep study in a lab or clinic. Looking at the objective data, well-conducted studies usually show women sleep about 20 minutes more than men. One global study of nearly 70,000 people who wore wearable sleep trackers found a consistent, small difference between men and women across age groups. For example, the sleep difference between men and women aged 40–44 was about 23–29 minutes. Another large study using polysomnography found women slept about 19 minutes longer than men. In this study, women also spent more time in deep sleep: about 23% of the night compared to about 14% for men. The study also found only men's quality of sleep declined with age. The key caveat to these findings is that our individual sleep needs vary considerably. Women may sleep slightly more on average, just as they are slightly shorter on average. But there is no one-size-fits-all sleep duration, just as there is no universal height. Suggesting every woman needs 20 extra minutes (let alone two hours) misses the point. It's the same as insisting all women should be shorter than all men. Even though women tend to sleep a little longer and deeper, they consistently report poorer sleep quality. They're also about 40% more likely to be diagnosed with insomnia. This mismatch between lab findings and the real world is a well-known puzzle in sleep research, and there are many reasons for it. For instance, many research studies don't consider mental health problems, medications, alcohol use and hormonal fluctuations. This filters out the very factors that shape sleep in the real world. This mismatch between the lab and the bedroom also reminds us sleep doesn't happen in a vacuum. Women's sleep is shaped by a complex mix of biological, psychological and social factors, and this complexity is hard to capture in individual studies. Let's start with biology Sleep problems begin to diverge between the sexes around puberty. They spike again during pregnancy, after birth and during perimenopause. Fluctuating levels of ovarian hormones, particularly oestrogen and progesterone, seem to explain some of these sex differences in sleep. For example, many girls and women report poorer sleep during the premenstrual phase just before their periods, when oestrogen and progesterone begin to fall. Perhaps the most well-documented hormonal influence on our sleep is the decline in oestrogen during perimenopause. This is linked to increased sleep disturbances, particularly waking at 3am and struggling to get back to sleep. Some health conditions also play a part in women's sleep health. Thyroid disorders and iron deficiency, for instance, are more common in women and are closely linked to fatigue and disrupted sleep. How about psychology? Women are at much higher risk of depression, anxiety and trauma-related disorders. These very often accompany sleep problems and fatigue. Cognitive patterns, such as worry and rumination, are also more common in women and known to affect sleep. Women are also prescribed antidepressants more often than men, and these medications tend to affect sleep. Society also plays a role Caregiving and emotional labour still fall disproportionately on women. Government data released this year suggests Australian women perform an average nine more hours of unpaid care and work each week than men. While many women manage to put enough time aside for sleep, their opportunities for daytime rest are often scarce. This puts a lot of pressure on sleep to deliver all the restoration women need. In my work with patients, we often untangle the threads woven into their experience of fatigue. While poor sleep is the obvious culprit, fatigue can also signal something deeper, such as underlying health issues, emotional strain, or too-high expectations of themselves. Sleep is certainly part of the picture, but it's rarely the whole story. For instance, rates of iron deficiency (which we know is more common in women and linked to sleep problems) are also higher in the reproductive years. This is just as many women are raising children and grappling with the 'juggle' and the 'mental load'. Women in perimenopause are often navigating full-time work, teenagers, ageing parents and 3am hot flashes. These women may have adequate or even high-quality sleep (according to objective measures), but that doesn't mean they wake feeling restored. Most existing research also ignores gender-diverse populations. This limits our understanding of how sleep is shaped not just by biology, but by things such as identity and social context. So where does this leave us? While women sleep longer and better in the lab, they face more barriers to feeling rested in everyday life. So, do women need more sleep than men? On average, yes, a little. But more importantly, women need more support and opportunity to recharge and recover across the day, and at night. This article is republished from The Conversation. It was written by: Amelia Scott, Macquarie University Read more: Is childbirth really safer for women and babies in private hospitals? Is our mental health determined by where we live – or is it the other way round? New research sheds more light From Sister Rosetta Tharpe to Ronnie Yoshiko Fujiyama: how electric guitarists challenge expectations of gender Amelia Scott is a member of the psychology education subcommittee of the Australasian Sleep Association. She receives funding from Macquarie University.
