Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Symptoms of spasmodic dysphonia can come on suddenly or gradually appear over the span of years. They can come and go for hours or even weeks at a time, or remain consistent. Gradual onset can begin with the manifestation of a hoarse voice quality, which may later transform into a voice quality described as strained and breaks in phonation. These phonation breaks have been compared to stuttering in the past, but there is a lack of research in support of spasmodic dysphonia being classified as a fluency disorder. It is commonly reported by people with spasmodic dysphonia that symptoms almost only occur on vocal/speech sounds that require phonation. Symptoms are less likely to occur at rest, while whispering, and/or on speech sounds that do not require phonation. It is hypothesized this occurs because of an increase in sporadic, sudden, and prolonged tension found in the muscles around the larynx during phonation. This tension affects the abduction and adduction (opening and closing) of the vocal folds. Consequently, the vocal folds are unable to retain subglottal air pressure (required for phonation) and breaks in phonation can be heard throughout the speech of people with spasmodic dysphonia.
Regarding types of spasmodic dysphonia, the main characteristic of spasmodic dysphonia, breaks in phonation, is found along with other varying symptoms. The voice quality of adductor spasmodic dysphonia can be described as “strained-strangled” from tension in the glottal region. Voice quality for abductor spasmodic dysphonia can be described as breathy from variable widening of the glottal region. Vocal tremor may also be seen in spasmodic dysphonia. A mix and variance of these symptoms are found in mixed spasmodic dysphonia.
Symptoms of spasmodic dysphonia typically appear in middle aged people, but have also been seen in people in their twenties, with symptoms emerging as young as teenage years.
The three types of spasmodic dysphonia (SD) are adductor spasmodic dysphonia, abductor spasmodic dysphonia and mixed spasmodic dysphonia.
Dysphonia is a broad clinical term which refers to abnormal functioning of the voice. More specifically, a voice can be classified as “dysphonic” when there are abnormalities or impairments in one or more of the following parameters of voice: pitch, loudness, quality, and variability. For example, abnormal pitch can be characterized by a voice that is too high or low whereas abnormal loudness can be characterized by a voice that is too weak or loud. Similarly, a voice that has frequent, inappropriate breaks characterizes abnormal quality while a voice that is monotone (i.e., very flat) or inappropriately fluctuates characterizes abnormal variability. While hoarseness is used interchangeably with the term dysphonia, it is important to note that the two are not synonymous. Hoarseness is merely a subjective term to explain the perceptual quality (or sound) of a dysphonic voice. While hoarseness is a common symptom (or complaint) of dysphonia, there are several other signs and symptoms that can be present such as: breathiness, roughness, and dryness. Furthermore, a voice can be classified as dysphonic when it poses problems in the functional or occupational needs of the individual or is inappropriate for their age or sex.
Voice disorders can be divided into 2 broad categories: organic and functional. The distinction between these broad classes stems from their cause, whereby organic dysphonia results from some sort of physiological change in one of the subsystems of speech (for voice, usually respiration, laryngeal anatomy, and/or other parts of the vocal tract are affected). Conversely, functional dysphonia refers to hoarseness resulting from vocal use (i.e. overuse/abuse). Furthermore, according to ASHA, organic dysphonia can be subdivided into structural and neurogenic; neurogenic dysphonia is defined as impacted functioning of the vocal structure due to a neurological problem (in the central nervous system or peripheral nervous system); in contrast, structural dysphonia is defined as impacted functioning of the vocal mechanism that is caused by some sort of physical change (e.g. a lesion on the vocal folds). Notably, an additional subcategory of functional dysphonia recognized by professionals is psychogenic dysphonia, which can be defined as a type of voice disorder that has no known cause and can be presumed to be a product of some sort of psychological stressors in one’s environment. It is important to note that these types are not mutually exclusive and much overlap occurs. For example, Muscle Tension Dysphonia (MTD) has been found to be a result of many different causes including the following: MTD in the presence of an organic pathology (i.e. organic type), MTD stemming from vocal use (i.e. functional type), and MTD as a result of personality and/or psychological factors (i.e. psychogenic type).
Oromandibular Symptoms
- difficulty opening the mouth (trismus)
- clenching or grinding of the teeth (bruxism)
- spasms of jaw opening
- sideways deviation or protrusion of the jaw
- lip tightening and pursing
- drawing back (retraction) of the corners of the mouth
- deviation or protrusion of the tongue.
- jaw pain
- difficulties eating and drinking
- difficulties speaking (dysarthria)
Blepharospasm symptoms
- the first symptom to appear is an increased rate of blinking
- uncontrollable squinting/closing of eyes
- light sensitivity (photophobia)
- squinting/eyes closing during speech
- uncontrollable eyes closing shut (rare instances completely causing blindness)
In addition, in some patients, the dystonic spasms may sometimes be provoked by certain activities, such as talking, chewing, or biting. Particular activities or sensory tricks may sometimes temporarily alleviate OMD symptoms, including chewing gum, talking, placing a toothpick in the mouth, lightly touching the lips or chin, or applying pressure beneath the chin.
The Greek word "blepharon" means "eyelid". Spasm means "uncontrolled muscle contraction". The term blepharospasm ['blef-a-ro-spaz-m] can be applied to any abnormal blinking or eyelid tic or twitch resulting from any cause, ranging from dry eyes to Tourette's syndrome to tardive dyskinesia. The blepharospasm referred to here is officially called benign essential blepharospasm (BEB) to distinguish it from the less serious secondary blinking disorders. "Benign" indicates the condition is not life-threatening, and "essential" is a medical term meaning "of unknown cause". It is both a cranial and a focal dystonia. Cranial refers to the head and focal indicates confinement to one part. The word dystonia describes abnormal involuntary sustained muscle contractions and spasms. Patients with blepharospasm have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids.
Oromandibular dystonia (OMD) is a form of focal dystonia that affects varying areas of the head and neck including the lower face, jaw, tongue and larynx. The spasms may cause the mouth to pull open, shut tight, or move repetitively. Speech and swallowing may be distorted. It is often associated with dystonia of the cervical muscles (Spasmodic Torticollis), eyelids (Blepharospasm), or larynx (Spasmodic Dysphonia).
In patients with OMD, involuntary contractions may involve the muscles used for chewing (masticatory muscles). These may include the thick muscle in the cheek that closes the jaw (masseter muscle) and the broad muscle that draws back the lower jaw and closes the mouth (temporalis muscle). Some patients may also experience involuntary contractions of the wide muscle at the side of the neck (platysmal muscle). This muscle draws down the corner of the mouth and lower lip or other muscle groups.
Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. Many sufferers have continuous pain, cramping, and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking.
Early symptoms may include loss of precision muscle coordination (sometimes first manifested in declining penmanship, frequent small injuries to the hands, and dropped items), cramping pain with sustained use, and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. Trembling in the jaw may be felt and heard while lying down, and the constant movement to avoid pain may result in the grinding and wearing down of teeth, or symptoms similar to temporomandibular joint disorder. The voice may crack frequently or become harsh, triggering frequent throat clearing. Swallowing can become difficult and accompanied by painful cramping.
Electrical sensors (EMG) inserted into affected muscle groups, while painful, can provide a definitive diagnosis by showing pulsating nerve signals being transmitted to the muscles even when they are at rest. The brain appears to signal portions of fibers within the affected muscle groups at a firing speed of about 10 Hz causing them to pulsate, tremble and contort. When called upon to perform an intentional activity, the muscles fatigue very quickly and some portions of the muscle groups do not respond (causing weakness) while other portions over-respond or become rigid (causing micro-tears under load). The symptoms worsen significantly with use, especially in the case of focal dystonia, and a "mirror effect" is often observed in other body parts: Use of the right hand may cause pain and cramping in that hand as well as in the other hand and legs that were not being used. Stress, anxiety, lack of sleep, sustained use and cold temperatures can worsen symptoms.
Direct symptoms may be accompanied by secondary effects of the continuous muscle and brain activity, including disturbed sleep patterns, exhaustion, mood swings, mental stress, difficulty concentrating, blurred vision, digestive problems, and short temper. People with dystonia may also become depressed and find great difficulty adapting their activities and livelihood to a progressing disability. Side-effects from treatment and medications can also present challenges in normal activities.
In some cases, symptoms may progress and then plateau for years, or stop progressing entirely. The progression may be delayed by treatment or adaptive lifestyle changes, while forced continued use may make symptoms progress more rapidly. In others, the symptoms may progress to total disability, making some of the more risky forms of treatment worth considering. In some cases with patients who already have dystonia, a subsequent tramatic injury or the effects of general anethesia during an unrelated surgery can cause the symptoms to progress rapidly.
An accurate diagnosis may be difficult because of the way the disorder manifests itself. Sufferers may be diagnosed as having similar and perhaps related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, TMD, Tourette's syndrome, conversion disorder or other neuromuscular movement disorders. It has been found that the prevalence of dystonia is high in individuals with Huntington's disease, where the most common clinical presentations are internal shoulder rotation, sustained fist clenching, knee flexion, and foot inversion. Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication.
There are several types of torsion dystonia that affect different areas of the body. However, it is unknown if the gene that causes Early Onset Torsion Dystonia is responsible for the other dystonias as well.
- Cervical dystonia (spasmodic torticollis): A type of dystonia that affects the head, neck and spine. It can create problems by the characteristic turning of the head and neck from side to side.
- Blepharospasm: This type of dystonia causes involuntary contraction of the eyelids. The main concern for this dystonia is that it can cause the eyelids to close involuntarily and for indefinite periods of time.
- Oromandibular dystonia: A dystonia of the jaw, lips, and/or the tongue. It can make eating and swallowing very complicated due to the jaw being held open or shut for periods of time.
- Spasmodic dysphonia: A dystonia of the vocal cords. The complications surrounding this form of dystonia are speech related and can cause symptoms such as speech that wavers, speech that sounds like a whisper, or speech that is hesitant.
- Writer's cramp (occupational dystonia): A dystonia that affects the muscles of the hand and forearm. It is triggered by attempting to write or execute other fine-motor hand functions.
- Orofacial-Buccal dystonia (Meige's or Brueghal's Syndrome): A combination of blepharospasm and oromandibular dystonia.
- Early-onset torsion dystonia: The most severe type of dystonia, it begins in an arm or leg and progresses to the rest of the body until the person — in most cases, a child — is confined to a wheel chair.
Segmental dystonias affect two adjoining parts of the body:
- Hemidystonia affects an arm and foot on one side of the body.
- Multifocal dystonia affects many different parts of the body.
- Generalized dystonia affects most of the body, frequently involving the legs and back.
Dysarthria is the reduced ability to motor plan volitional movements needed for speech production as the result of weakness/paresis and/or paralysis of the musculature of the oral mechanism needed for respiration, phonation, resonance, articulation, and/or prosody.
Motor speech disorders are a class of speech disorders that disturb the body's natural ability to speak due to neurologic impairments. These neurologic impairments make it difficult for individuals with motor speech disorders to plan, program, control, coordinate, and execute speech productions. Disturbances to the individual's natural ability to speak vary in their etiology based on the integrity and integration of cognitive, neuromuscular, and musculoskeletal activities. Speaking is an act dependent on thought and timed execution of airflow and oral motor / oral placement of the lips, tongue, and jaw that can be disrupted by weakness in oral musculature (dysarthria) or an inability to execute the motor movements needed for specific speech sound production (apraxia of speech or developmental verbal dyspraxia). Such deficits can be related to pathology of the nervous system (central and /or peripheral systems involved in motor planning) that affect the timing of respiration, phonation, prosody, and articulation in isolation or in conjunction.
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state.
Voice disorders are medical conditions involving abnormal pitch, loudness or quality of the sound produced by the larynx and thereby affecting speech production. These include:
- Puberphonia
- Chorditis
- Vocal fold nodules
- Vocal fold cysts
- Vocal cord paresis
- Reinke's edema
- Spasmodic dysphonia
- Foreign accent syndrome
- Bogart–Bacall syndrome
- Laryngeal papillomatosis
- Laryngitis
Oromandibular dystonia is a form of focal dystonia affecting the mouth, jaw and tongue, and in this disease it is hard to speak. It is associated with bruxism.
Botulinum toxin has been used in treatment.
Since the root of the problem is neurological, doctors have explored sensorimotor retraining activities to enable the brain to "rewire" itself and eliminate dystonic movements. The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity, making it possible for patients to recover substantial function that was lost due to Cervical Dystonia, oromandibular dystonia and dysphonia.
In mild cases, ET can manifest as the inability to stop the tongue or hands from shaking, the ability to sing only in vibrato, and difficulty doing small precise tasks such as threading a needle. Even simple tasks like cutting in a straight line or using a ruler can range from difficult to impossible, depending on the severity of the condition. In disabling cases, ET can interfere with a person's activities of daily living, including feeding, dressing, and taking care of personal hygiene. Essential tremor generally presents as a rhythmic tremor (4–12 Hz) that occurs only when the affected muscle is exerting effort. Any sort of physical or mental stress will tend to make the tremor worse.
The tremor may also occur in the head (neck), jaw and voice as well as other body regions, with the general pattern being that the tremor begins in the arms and then spreads to these other regions in some people. Women are more likely to develop the head tremor than are men. Other types of tremor may also occur, including postural tremor of the outstretched arms, intention tremor of the arms and rest tremor in the arms. Some people may have unsteadiness and problems with gait and balance.
ET-related tremors do not occur during sleep, but people with ET sometimes complain of an especially coarse tremor upon awakening that becomes noticeably less coarse within the first few minutes of wakefulness. Tremor and disease activity/intensity can worsen in response to fatigue, strong emotions, low blood sugar, cold and heat, caffeine, lithium salts, some antidepressants, and other factors. It is typical for the tremor to worsen in "performance" situations, such as when writing a check for payment at a store or giving a presentation.
Parkinson's disease and Parkinsonism can also occur simultaneously with ET. In those cases the degree of tremor, rigidity, and functional disability does not differ from those people with idiopathic Parkinson's disease. Hand tremor predominates (as it does in Parkinson’s disease), and occurs in nearly all cases, followed by head tremor, voice tremor, neck, face, leg, tongue and trunk tremor. Most other tremors occur in association with hand tremor. Walking difficulties in essential tremor are common. About half of patients have associated dystonia, including cervical dystonia, writer's cramp, spasmodic dysphonia, and cranial dystonia, and 20% of the patients had associated parkinsonism. Olfactory dysfunction (loss of sense of smell) is common in Parkinson’s disease, and has also been reported to occur in patients with essential tremor. A number of patients with essential tremor also exhibit many of the same neuropsychiatric disturbances seen in idiopathic Parkinson's disease.
Essential tremor with tremor onset after the age of 65 is associated with Mild cognitive impairement and dementia.
This type of tremor is often referred to as "kinetic tremor".
Essential tremor has been known as "benign essential tremor", but the adjective "benign" has been removed in recognition of the sometimes disabling nature of the disorder.
Bogart–Bacall syndrome (BBS) is a voice disorder that is caused by abuse or overuse of the vocal cords.
People who speak or sing outside their normal vocal range can develop BBS; symptoms are chiefly an unnaturally deep or rough voice, or dysphonia, and vocal fatigue. The people most commonly afflicted are those who speak in a low-pitched voice, particularly if they have poor breath and vocal control. The syndrome can affect both men and women.
In 1988 an article was published, describing a discrete type of vocal dysfunction which results in men sounding like Humphrey Bogart and women sounding like Lauren Bacall. BBS is now the medical term for an ongoing hoarseness that often afflicts actors, singers or TV/radio voice workers who routinely speak in a very low pitch.
Treatment usually involves voice therapy by a speech language pathologist.
Symptoms of this syndrome are consequences of this paresis. As such, in an affected patient, you may find:
- dysphonia/hoarseness
- soft palate dropping
- deviation of the uvula towards the normal side
- dysphagia
- loss of sensory function from the posterior 1/3 of the tongue
- decrease in the parotid gland secretion
- loss of gag reflex
- sternocleidomastoid and trapezius muscles paresis
Speech and language impairment are basic categories that might be drawn in issues of communication involve hearing, speech, language, and fluency.
A speech impairment is characterized by difficulty in articulation of words. Examples include stuttering or problems producing particular sounds. Articulation refers to the sounds, syllables, and phonology produced by the individual. Voice, however, may refer to the characteristics of the sounds produced—specifically, the pitch, quality, and intensity of the sound. Often, fluency will also be considered a category under speech, encompassing the characteristics of rhythm, rate, and emphasis of the sound produced
A language impairment is a specific impairment in understanding and sharing thoughts and ideas, i.e. a disorder that involves the processing of linguistic information. Problems that may be experienced can involve the form of language, including grammar, morphology, syntax; and the functional aspects of language, including semantics and pragmatics
An individual can have one or both types of impairment. These impairments/disorders are identified by a speech and language pathologist.
Jugular foramen syndrome, or Vernet's syndrome is characterized by the paresis of 9th–11th (with or without 12th) cranial nerves together.
The following are brief definitions of several of the more prominent speech disorders:
Separation anxiety disorder
- excessive stress when separated from home or family
- fear of being alone
- refusal to sleep alone
- clinginess
- excessive worry about safety
- excessive worry about getting lost
- frequent medical complaints with no cause
- refusal to go to school
Selective mutism
- unable to speak in certain social situations, even though they are comfortable speaking at home or with friends
- difficulty maintaining eye contact
- may have blank facial expressions
- stiff body movements
- may have a worrisome personality
- may be incredibly sensitive to sound
- difficulty with verbal and non-verbal expression
- may appear shy, when in reality, they have a fear of people.
Reactive attachment disorder of infancy or early childhood
- withdrawing from others
- aggressive attitude towards peers
- awkwardness or discomfort
- watching others but not engaging in social interaction
Stereotypic movement disorder
- head banging
- nail biting
- hitting or biting oneself
- hand waving or shaking
- rocking back and forth
Children with a tic disorder may exhibit the following symptoms:
- overwhelming urge to make movement
- jerking of arms
- clenching of fists
- excessive eye blinking
- shrugging of shoulders
- kicking
- raising eyebrows
- flaring of nostrils
- production of repetitive noises such as grunting, clicking, moaning, snorting, squealing, or throat clearing
Benign paroxysmal vertigo of childhood is an uncommon neurological disorder which presents with recurrent episodes of dizziness. The presentation is usually between the ages of 2 years and 7 years of age and is characterised by short episodes of vertigo of sudden onset when the child appears distressed and unwell. The child may cling to something or someone for support. The episode lasts only minutes and resolves suddenly and completely. It is a self-limiting condition and usually resolves after about eighteen months, although many go on to experience migrainous vertigo (or vertiginous migraine) when older.
Benign paroxysmal vertigo of childhood is a migrainous phenomenon with more than 50% of those affected having a family history of migraines affecting a first-degree relative. It has no relationship to benign paroxysmal positional vertigo which is a different condition entirely.
This syndrome is characterized by sensory deficits that affect the trunk and extremities contralaterally, and sensory deficits of the face and cranial nerves ipsilaterally. Specifically a loss of pain and temperature sensation if the spinothalamic tract is impacted. The cross body finding is the chief symptom from which a diagnosis can be made.
Patients often have difficulty walking or maintaining balance, or difference in temperature of an object based on which side of the body the object of varying temperature is touching. Some patients may walk with a slant or suffer form skew deviation and illusions of room tilt. The nystagmus is commonly associated with vertigo spells. These vertigo spells can result in falling, caused from the involvement of the region of Deiters’ nucleus.
Common symptoms with lateral medullary syndrome may include difficulty swallowing, or dysphagia. This can be caused by the involvement of the nucleus ambiguous, as it supplies the vagus and glossopharyngeal nerves. Slurred speech (dysarthria), and disordered vocal quality (dysphonia) are also common. The damage to the cerebellum or the inferior cerebellar peduncle can cause ataxia. Damage to the hypothalamospinal fibers disrupts sympathetic nervous system relay and gives symptoms that are similar to the symptoms caused by Horner syndrome.
Palatal myoclonus, the twitching of the muscles of the mouth, may be observed due to disruption of the central tegmental tract. Other symptoms include: hoarseness, nausea, vomiting, a decrease in sweating, problems with body temperature sensation, dizziness, difficulty walking, and difficulty maintaining balance. Lateral medullary syndrome can also cause bradycardia, a slow heart rate, and increases or decreases in the patients average blood pressure.