Saturday, October 24, 2015

Misdiagnosis Narcolepsy

Narcolepsy is a neurological auto immune disorder in which the person is afflicted with various types of day and nighttime sleep disturbances because of abnormalities in rapid eye movement (REM) sleep. Because the rapid eye movement (REM) sleep is abnormal in narcolepsy it is sometimes defined as the loss of boundaries between wakefulness, non-REM sleep, and REM sleep (North Side Sleep Medicine, 2014).  According to the National Institute of Neurological Disorders and Stroke (2014) a common misconception is that people with narcolepsy sleep more than people without narcolepsy, when in fact the amount of sleep does not actually differ too much between the two. In reality, narcoleptics exhibit various types of both day and nighttime sleep disturbances and symptoms (NINDS, 2014).

The two primary symptoms in narcolepsy are Excessive daytime sleepiness (EDS) and cataplexy. Excessive daytime sleepiness, frequent daily sleep attacks or a need to take several naps during the day are all part of the clinical syndrome of narcolepsy. Another common symptom called cataplexy is usually brought on by strong emotions and includes temporary and sudden muscle weakness. While cataplexy makes the diagnosis easier to spot when recognized, Narcolepsy can exist without cataplexy or the patients may not know when or what the cataplexy is when it happens. Other patients may experience symptoms in the narcoleptic tetrad including Microsleep, Atonia or Sleep Paralysis, hypnagogic or hypnopompic hallucinations.

Excessive daytime sleepiness (EDS)

• Cataplexy


Atonia or Sleep Paralysis

Hypnagogic or hypnopompic hallucinations

A microsleep (MS) is a temporary and brief episode of sleep in which a person who is seemingly awake fails to respond to sensory input. During Microsleep episodes the narcoleptic often behaves automatically but without conscious awareness. These events can occur simultaneously with a blank stare, head snapping, and prolonged eye closure such as seen when person is fatigued, but trying to stay awake to perform a monotonous task like driving a car or watching a computer screen (Sleepdex, 2014).. Microsleep episodes are very brief tending to last anywhere from a few seconds to two minutes (Sleepdex, 2014). Often the person is unaware the microsleep occurred and because they happen with the eyes open they can be missed by the observer as well.

Atonia or Sleep Paralysis describes a sense of paralysis that occurs between wakefulness and sleep. During an episode of sleep paralysis the person is not able to move their body or limbs. Atonia is defined as lack of tone or energy; muscular weakness, especially in a contractile organ. When atonia happens during the transition from waking to sleep or from sleep to waking it is called sleep paralysis and the person is aware, but unable to move.

Hypnagogic Hallucinations are dreams like states that intrude on wakefulness and can cause visual, auditory, or touchable sensations. Hypnagogic Hallucinations can occur between waking and sleeping, usually at the onset of sleep, but can also occur about 30 seconds after a cataplectic attack.According to the University of Maryland Medical Center the visual hallucinations have been described as a "film running through the head" or as a waking dream with intrusive imagery commonly involving seeing colored forms that shift in size and shape (UMMC, 2014). Auditory hallucinations may include random sounds or elaborate melodies while tactile hallucinations can include feelings of rubbing, light touches or even levitation (UMMC, 2014).

Typically speaking individuals with narcolepsy have little to no difficulties falling asleep at night and slip into Rem sleep shortly after falling asleep. However, most narcoleptic s experience difficulties staying asleep (NINDS, 2014). Many Narcoleptics may have their sleep disrupted by insomnia, vivid dreaming, sleep talking, acting out while dreaming, as well as periodic leg movements (NINDS, 2014).

Disrupted Nocturnal Sleep Symptoms

o Insomnia

o Vivid dreaming

o Sleep talking

o Acting out while dreaming

o periodic leg movements while sleeping

Other peculiar behavior seen in narcoleptic s that may seem non specific include cognitive and behavioral symptoms such as forgetfulness, clumsiness, location disorientation, pauses or slows in speech or an inability to follow or maintain conversations.

Cognitive or Behavioral Symptoms (UMMC, 2014)

Severe forgetfulness

End up in a location different from the intended one.

Jump from one unrelated topic to another or just trail off and stop talking altogether.

Perform bizarre actions, such as putting socks in the refrigerator.

Movements that suddenly becomes slow or clumsy.

Behavior that may resemble some forms of epileptic seizures.

Narcoleptic’s are at risk for severe emotional and social dysfunction in all areas, including work, relationships and leisure activities placing narcoleptic at risk for depression and anxiety. Persons who have narcolepsy also are at risk for obesity.

The emotional, social and physical symptoms


Emotional Dysfunction

Social Dysfunction


It is now widely accepted that narcoleptic symptoms are consequences of an auto immune disorder. Narcoleptic symptom(s), more specifically cataplexy, are said to the result of an immune attack against cells containing the brain peptide hypocretin (orexin). It is believed that the symptoms of Narcolepsy arise when the immune attack against hypocretin cells results in deficiencies in the brain peptide hypocretin. Current theory suggests that Hypocretin deficiencies could trigger chemical responses that produce the sleep attacks in patients with narcolepsy with cataplexy. Today’s research also suggests some genetic components, such as the genetic marker (HLA) DQB1-0602, are associated with the development of Narcolepsy and low levels of hypocretin. However, because up to 20% of the persons without narcolepsy also have this gene environmental trigger such as infection, trauma, hormonal changes, immune system problems, or stress are also suspected triggers.

The symptoms of narcolepsy have a propensity to begin subtly and can change dramatically over time. Although they sound dramatic the symptoms of narcolepsy are not always clinically apparent to the patient or a skilled observer. When patients do seek treatment patients often seek treatment for only one symptom such as sleep paralysis or hypnagogic hallucinations. Narcolepsy also goes undetected because it does not show up on blood test or present with any biological indicators. Partly because the patients does not report other symptoms and partly because the practitioner does not look for them symptoms of Narcolepsy can go under recognized or misdiagnosed for over 15 years. Narcolepsy can be under recognized and misdiagnosed as several other medical diagnoses such as Chronic Fatigue Syndrome, Convulsions, Epilepsy, Hypersomnia, Obstructive sleep apnea, Sleep apnea, Thyroid disorders, depression or the side effects of medications (Health Grades, 2014). In unrecognized narcolepsy with daytime hypnagogic/hypnapompic hallucinations the presentation can mistakenly incline towards delusional psychoses (Szűcs, Janszky, Holló, Migléczi and Halász, 2003). Consequently, many narcolepsy patients are diagnosed erroneously with psychiatric disorders such as depression, bi-polar, schizophrenia, or even malingering.

An incorrect diagnosis of depression, bipolar, psychosis or schizophrenia can have serious therapeutic implications for patients receiving antidepressants, mood stabilizers and anti-psychotics by exposing them to these drugs' side effects when unnecessary. In addition to this unnecessary exposure to medication side effects in many cases the narcolepsy remains undiagnosed and untreated. Undiagnosed and untreated narcolepsy can have serious consequences narcolepsy-related accidents include burns from touching hot objects, cuts from sharp objects and car accidents. The University of Maryland Medical Center (2014) reported that almost 75% of patients with narcolepsy reported falling asleep while driving, and 56% reported nearly having accidents. A few useful clinical features in differentiating narcolepsy from psychoses are: the presence of other narcoleptic symptoms, features of hallucinations and response to adequate medication (Szűcs, Janszky, Holló, Migléczi and Halász, 2003).