Suicidal Ideation and Muscle Twitches | Case Study
A new case study in which the patient, a 40 yr-old mixed-race woman presents to her primary care physician with concerns about suicidal ideation. She has some other troubling symptoms as well including muscle twitches, fatigue, difficulty concentrating and memory lapses.
Suicidal ideation, fatigue, difficulty concentrating, memory lapses and muscle twitches.
History of Present Illness
"My children begged me to come in. They are so worried about me. The other day, my son started yelling at me – he said I had been standing in front of the open....um...oh what is it called...where you keep your food cold...for 20 minutes, just staring.” Patient states she has been experiencing symptoms for more than a year. "They came on so gradually. I used to be such an upbeat, happy person. My best friend called me a few months ago and I couldn't remember her name, so I stopped returning her calls. I've been thinking lately about ending it all. I just can't take it anymore, but my kids need me.” She can't think of any precipitating reason for onset of symptoms. She states low mood and other mental symptoms began over a year ago, muscle twitches have been happening for at least 6 months.
General Appearance
She appears her stated race, age and gender. She is slender with short hair and a downcast expression. She doesn't make eye contact and her clothing is wrinkled and stained. "I'm sorry for how I look. I just can't seem to find the energy to do anything.” During her assessment you notice her head jerk to the side (toward the right shoulder) and she flexes her fingers continuously.
Past Medical History
Unremarkable. No complications with either pregnancy.
Family History
Patient was adopted when an infant. Her family history is unknown because she was found in a basket at the local fire station when she was only three weeks old. She has been divorced for five years and has a 21 yr-old daughter who is away at college and a 17 yr-old son who lives at home. Her adoptive parents are alive and well and living 1000 miles away.
Social History
Drinks 5- 6 alcoholic beverages weekly, smokes 3 cigarettes per day. "I'm trying to quit. I'm down from half a pack a day 6 months ago.” She works from home as a medical coder. "I've had to take a lot of time off. I can't seem to concentrate. I'm worried I'm going to get fired.”
Medications
Multi vitamin, occasional acetaminophen for headaches, melatonin for insomnia
Allergies
NKA
Vital Signs
BP 138/80 sitting, LA
HR 70 and regular
RR 18 unlabored
T 98.8oF
HT 5'4"
WT 110 lbs
What information will help with diagnosis? What labs do you want? What other diagnostic tests should we run?
When was her last menstrual period ? Is she on any form of birth control ?When was her last Pap, Mammogram ? Does she perform self breast exams at home ? Does she spend time outdoors and do they have pets ? Would she permit her son to answer some questions or submit his concerns about what’s been happening at home ? If she can’t remember, she may be doing things or not doing things that she doesn’t remember.
Labs: CBC/CMP, Vit B levels, Vit D levels, Intrinsic factor antibody test, Thyroid panel, Acetylcholine receptor antibody test,
Perform full neuro assessment on all cranial nerves, Assess musculoskeletal function bilaterally, upper and lower. Assess patients gait walking down the hall.
You mentioned she is mixed race. Do we know potential races ? What is her religion, and/or cultural beliefs ?
BTW, I love that someone mentioned an infectious disease, Lymes panel/screening. I didn’t even think of that, but where she lives, she would be at risk.
Specializes in Education, Informatics, Patient Safety.
First follow up post:
Review of Systems: only abnormal values presented:
No history of issues with menstruation. Patient does not know her heritage and didn't want to talk about why she marked "mixed race" on the demographic sheet. Diet is unremarkable for toxins or allergies.
Musculoskeletal: myoclonic jerks of head to right shoulder and muscle twitches in all extremities including forehead elevation, mouth pursing and finger flexing. Patient is unable to anticipate them or prevent them. Atrophy in intrinsic hand muscles. Mild to moderate weakness is detected intrinsic hand muscles, ankle dorsiflexors and toe extensors bilaterally.
Myoclonus can occur by itself or as one of several symptoms associated with a wide variety of nervous system disorders such as multiple sclerosis or epilepsy, and with neurodegenerative diseases such as Parkinson’s, Huntington’s, Alzheimer’s, or Creutzfeldt-Jakob disease.
No issues found with DTRs, sensory examination intact, coordination normal, cranial nerves normal. Patient alert and oriented.
Patient is found to have symptoms of major depressive disorder.
Neuropsychiatric evaluation showed mild to moderate memory impairment with verbal memory affected more than visual memory. Executive function and attention were intact.
The Mini-Mental State Examination (MMSE) score: 23
Montreal Cognitive Assessment (MoCA) score: 23
Laboratory Test Results (normal range):
Na 140 meg/L (135-145)
K 4.0 meq/L (3.5-5)
Cl 108 (101-112)
Mg 2.3 mg/dL (1.8-3)
PO4 3.2 mg/dL (2.5-4.5)
HCO3 29 mg/dL (22-32)
BUN 15 mg/dL (8-20)
Cr 0.7 mg/dL (0.6-1.2)
Glu fasting 72 mg/dL (60-110)
Ca 10 mh/dL (8.5-10.5)
TSH 5 uU/mL (0.4-6)
FT4 20 pmol/L (9-24)
PTH 40 pg/mL (11-54)
Hb 12.3 g/dL females (12-15.5)
Hct 38.5% females (35-45%)
Plt 170,000 cu/mm (150,000-450,000)
WBC 6.2 x 103/mm3 (4,800- 10,800)
Vitamin D and B levels WNL
Urine tests: WNL
The following blood test results were normal or negative: hemogram, red blood cell morphology, total iron binding capacity, comprehensive metabolic panel, erythrocyte sedimentation rate, serum protein electrophoresis, leukocyte hexosaminidase activity, and levels of vitamin B12, folate, thiamine, vitamin E, copper, thyrotropin, and parathyroid hormone. The results of serological testing for syphilis, human immunodeficiency virus, Lyme disease, and human T-lymphotrophic virus 1 were negative. Antibodies to thyroglobulin, GM1 gangliosidosis, GD1B ganglioside, and tissue transglutaminase IgA were absent; paraneoplastic antibody panel was negative (including Purkinje cell cytoplasmic antibody type 1 and collapsin response-mediated protein 5 antibody).
Serum antinuclear antibody titer was 1:160 (reference range, <1:160). Serum creatine kinase was elevated at 563 (reference range, 40-210 U/L) (to convert to microkatals per liter, multiply by 0.0167), and the serum ceruloplasmin level was 24.4 (reference range, 14.0-21.9 mg/dL).
EMG: Long Latency Response on right side
Findings from nerve conduction studies showed decreased amplitudes of compound muscle action potentials in the right median (2.3 mV; reference range, >4 mV) and peroneal (0.7 mV; reference range, >2 mV) nerves. Right ulnar and tibial motor responses and sensory responses were normal. Needle electromyography showed diffuse moderate active denervation and fasciculations in the cervical, thoracic, and lumbosacral myotomes.
MRI of brain reveals increased bicaudate diameter (ie, the distance between the heads of the 2 caudate nuclei) and increased bicaudate ratio (the minimum intercaudate distance divided by brain width along the same line) indicative of atrophy.
Patient and her two children meet with genetic counselor on zoom call with her adoptive parents to discuss pros and cons of genetic testing.
Specializes in Education, Informatics, Patient Safety.
FINAL POST
After extensive counseling about possible outcomes, genetic testing showed CAG repeat of 40 on chromosome 4, confirming a diagnosis of Huntington’s Disease.
The neurodegenerative Huntington’s Disease (HD) was first written about by George Huntington in 1872 when he published an article “On Chorea” (he was only 22 years old at the time). Chorea is from the Greek ford for “dance” and is a movement disorder that causes involuntary, irregular, unpredictable muscle movements. In 1994, it was found that HD is typically caused by an autosomal dominant inheritance of a mutation in the Huntington gene (HTT), but 10% of cases are due to new mutations. One in every 10,000 persons have HD (nearly 30,000 in the US). HD is not prevalent in any particular population - affecting both sexes and all races and ethnic groups around the world.
You may be familiar with Woodie Guthrie, who wrote “This Land Is Your Land” – he died of HD in 1967 at the age of 55. When he was in his 40’s, his began to demonstrate intolerant and violent behavior. He was eventually diagnosed with HD in 1952. Trey Gray, the drummer for the country duo Brooks and Dunn was diagnosed with HD in 2003. He continues to tour with the band despite his symptoms.
Symptom onset is between the ages of 30 and 50 years, though juvenile HD has been observed in 8-13% of cases (occurring before the age of 20). The HTT gene (found on chromosome 4) codes for the Huntingtin protein. Damage to this protein leads to atrophy of the caudate nucleus, degeneration of the inhibitory medium spiny neurons in the corpus striatum, and a decrease in levels of the neurotransmitters gamma-aminobutyric acid (GABA) and substance P. The greater the number of mutations in the gene, the more severe the symptoms.
Symptoms:
Cognitive impairments often associated with Huntington's disease include:
Difficulty organizing, prioritizing or focusing on tasks
Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)
Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
Lack of awareness of one's own behaviors and abilities
Slowness in processing thoughts or ''finding'' words
Difficulty in learning new information
Depression is the most common psychiatric disorder associated HD. It’s not a reaction to receiving a diagnosis, but appears to occur because of injury to the brain and subsequent changes in brain function.
Signs and symptoms of depression may include:
Feelings of irritability, sadness or apathy
Social withdrawal
Insomnia
Fatigue and loss of energy
Frequent thoughts of death, dying or suicide
Other common psychiatric disorders include:
Obsessive-compulsive disorder, a condition marked by recurrent, intrusive thoughts and repetitive behaviors
Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem
Bipolar disorder, a condition with alternating episodes of depression and mania
In addition to the above disorders, weight loss is common in people with Huntington's disease, especially as the disease progresses. Suicide is more common in those with HD than among the general population. Mental health problems often develop before or with movement disorder.
Physical:
myoclonic jerks and pseudo-tics which in HD cannot be suppressed. Those with HD often demonstrate a puppet-like gait, facial grimacing, inability to move the eyes quickly without blinking or head thrusting (oculomotor apraxia), inability to sustain a motor act (motor impersistence) such as tongue protrusion or grasping. Final stages make walking impossible and swallowing difficult. Death usually occurs 13-15 years after onset of symptoms.
Involuntary jerking or writhing movements (chorea)
Muscle problems, such as rigidity or muscle contracture (dystonia)
Slow or abnormal eye movements
Impaired gait, posture and balance
Difficulty with speech or swallowing
Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.
Common causes of death include:
Pneumonia or other infections
Injuries related to falls
Complications related to the inability to swallow
Diagnosis:
Clinical evaluation based on typical symptoms and signs plus a positive family history. A thorough neurological exam will be done of motor, sensory and psychiatric symptoms. Neuropsychological testing of memory, spatial reasoning, mental agility and language skills as well as a psychiatric evaluation of emotional state, patterns of behavior, quality of judgment and coping skills will be performed.
HD is confirmed by genetic testing to measure the number of CAG repeats in the HTT gene and neuroimaging to identify atrophy that occurs most commonly in the caudate but also in the frontal lobe. You might recall from your A&P that each of the brain's hemispheres contains a caudate nucleus, and both are located centrally and near the basal ganglia.
There is no cure for HD, and medications are used to decrease symptoms – none have been shown to slow progression of the disease.
Supportive measure and genetic counseling for relatives is common. This leads to ethical issues since genetic testing for HD can be done at any time. At what age should a person be tested? Should those with HD have children? What is the responsibility of a person with a family history of HD to get tested? A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50% chance of inheriting the gene that causes the genetic disorder. Using in vitro fertilization, it is possible to screen fertilized eggs for the HD mutation and only implant those that do not have the mutation.
Genetic counseling should occur before testing due to the severity of the diagnosis.
Psychiatric, speech, occupational and physical therapy can all be helpful in supporting those with HD.
Because HD is progressive, end-of-life care should be discussed early on.
Medications:
Austedo (deutetrabenazine): this is a new medication that In clinical studies has effectively reduced tardive dyskinesia (TD) movements
Antipsychotics may partially suppress chorea and agitation:
Chlorpromazine
Haloperidol
Risperidone
Olanzapine
Clozapine (white blood cell counts must be done frequently because agranulocytosis is a risk.)
The antipsychotic dose is increased until intolerable adverse effects (eg, lethargy, parkinsonism) develop or symptoms are controlled.
Vesicular monoamine transporter type 2 (VMAT-2) inhibitor (tetrabenazine/Xenazine, deutetrabenazine/Austedo) deplete dopamine and can lessen chorea and dyskinesias. Adverse effects can include excessive sedation, akathisia, parkinsonism, and depression. Depression is treated with antidepressants. VMAT-2 medications are more expensive than antipsychotics.
Current research is focused on reducing glutamatergic neurotransmission via the N-methyl-d-aspartate receptor and to support mitochondrial energy production.
At my first nursing job as an LPN in long term care, I cared for a person with Huntington's. She had the characteristic jerking movements, eye rolling, and tongue thrusting. I remember the struggle to administer her oral meds and always hoping she would not aspirate.
The following are the guesses/diagnoses/rationales from members who came to the Help Desk during the Suicidal Ideation and Muscle Twitches - "I used to be so happy", Case Study.
These symptoms sound consistent with Huntington's Chorea. Huntington's is an autosomal dominant progressive neurological degenerative disease. It affects a patient's motor skills, cognition, and psychiatric stability. This patient is displaying symptoms from all three of these areas as evidenced by the twitching, memory loss, insonnia, and suicidal ideation. She is also the prime age for the disease to develop (30s and 40s). Unfortunately, she has no family history to draw on since her biological birth parents are unknown.
A genetic test will confirm the defective gene causing Huntington's. A neurologist may priminarily diagnose this disease based on cognitive, motor and psychiatric abnormalities, plus a family history of Huntington's but basic blood tests are not diagnostic of Huntington's. Regardless, lab tests (cbc, cmp, liver, lipase, t3, t4, TSH, UA, UC, Utox) should be considered since they can rule out other possible medical conditions that could be causing these symptoms. Brain imaging such as CT or MRI may show degenerative changes if Huntington's has progressed far enough and is also useful for ruling out other neurological issues.
There is no cure for this disease. Medication and treatments merely treat the symptoms. The prognosis is grim. Death will follow within 10 to 30 years. While death usually results from pneumonia of swallowing difficulties, there is a high risk of suicide among these patients.
Treatments would include medications and therapies to handle the symptoms as they worsen. This would include psychotherapy, speech therapy, OT, PT.
BunnyBunnyBSNRN, ASN, BSN
1,019 Posts
Waiting on labs.....definately want to look at her thyroid, and vit D