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There are a great number of symptoms experienced by those with a functional neurological disorder. It is important to note that the symptoms experienced by those with an FND are very real , and should not be confused with malingering, factitious disorders, or Munchausen syndrome. At the same time, the origin of symptoms is complex since it can be associated with physical injury, severe psychological trauma (conversion disorder), and idiopathic neurological dysfunction. The core symptoms are those of motor or sensory function or episodes of altered awareness
- Limb weakness or paralysis
- Blackouts (also called dissociative or non-epileptic seizures/attacks) – these may look like epileptic seizures or faints
- Movement disorders including tremors, dystonia (spasms), myoclonus (jerky movements)
- Visual symptoms including loss of vision or double vision
- Speech symptoms including dysphonia (whispering speech), slurred or stuttering speech
- Sensory disturbance including hemisensory syndrome (altered sensation down one side of the body)
Functional neurological disorders are a common problem, and are the second most common reason for a neurological outpatient visit after headache/migraine. Dissociative (non-epileptic) seizures account for about 1 in 7 referrals to neurologists after an initial seizure, and functional weakness has a similar prevalence to multiple sclerosis.
Functional weakness is weakness of an arm or leg due to the nervous system not working properly. It is not caused by damage or disease of the nervous system. Patients with functional weakness experience symptoms of limb weakness which can be disabling and frightening such as problems walking or a ‘heaviness’ down one side, dropping things or a feeling that a limb just doesn’t feel normal or ‘part of them’. Functional weakness may also be described as functional neurological symptom disorder (FNsD), Functional Neurological Disorder (FND) or functional neurological symptoms. If the symptoms are caused by a psychological trigger, it may be diagnosed as 'dissociative motor disorder' or conversion disorder (CD).
To the patient and the doctor it often looks as if there has been a stroke or have symptoms of multiple sclerosis. However, unlike these conditions, with functional weakness there is no permanent damage to the nervous system which means that it can get better or even go away completely.
The diagnosis should usually be made by a consultant neurologist so that other neurological causes can be excluded. The diagnosis should be made on the basis of positive features in the history and the examination (such as Hoover's sign). It is dangerous to make the diagnosis simply because tests are normal. Neurologists usually diagnose wrongly about 5% of the time (which is the same for many other conditions.)
Many patients with functional weakness suffer from not being believed. Although psychological factors can be important for a some patients, for the majority of individuals the cause of their weakness has a physical trigger such as a virus, injury or other medical condition. The symptoms of functional weakness are real, and are as disabling and distressing as Multiple Sclerosis or Parkinson's.
The most effective treatment is physiotherapy, however it is also helpful for patients to understand the diagnosis, and some may find CBT helps them to cope with the emotions associated with being unwell. For those with conversion disorder, psychological therapy is key to their treatment as it is emotional or psychological factors which are causing their symptoms.
Giveway weakness (also "give-away weakness", "collapsing weakness", etc.) refers to a symptom where a patient's arm, leg, can initially provide resistance against an examiner's touch, but then suddenly "gives way" and provides no further muscular resistance.
The Pai Syndrome is a rare subtype of frontonasal dysplasia. It is a triad of developmental defects of the face, comprising midline cleft of the upper lip, nasal and facial skin polyps and central nervous system lipomas. When all the cases are compared, a difference in severity of the midline cleft of the upper lip can be seen. The mild form presents with just a gap between the upper teeth. The severe group presents with a complete cleft of the upper lip and alveolar ridge.
Nervous system lipomas are rare congenital benign tumors of the central nervous system, mostly located in the medial line and especially in the corpus callosum. Generally, patients with these lipomas present with strokes. However, patients with the Pai syndrome don’t. That is why it is suggested that isolated nervous system lipomas have a different embryological origin than the lipomas present in the Pai syndrome. The treatment of CNS lipomas mainly consists of observation and follow up.
Skin lipomas occur relatively often in the normal population. However, facial and nasal lipomas are rare, especially in childhood. However, the Pai syndrome often present with facial and nasal polyps. These skin lipomas are benign, and are therefore more a cosmetic problem than a functional problem.
The skin lipomas can develop on different parts of the face. The most common place is the nose. Other common places are the forehead, the conjunctivae and the frenulum linguae. The amount of skin lipomas is not related to the severity of the midline clefting.
Patients with the Pai syndrome have a normal neuropsychological development.
Until today there is no known cause for the Pai syndrome.
The large variety in phenotypes make the Pai syndrome difficult to diagnose. Thus the incidence of Pai syndrome seems to be underestimated.
This classification is based on the morphologic characteristics of FND, that describes a variety of phenotypes
Both of these classifications are further described in table 1. This table originates from the article ‘Acromelic frontonasal dysplasia: further delineation of a subtype with brain malformations and polydactyly (Toriello syndrome)', Verloes et al.