11.1 Hyperkinetic Movement Disorders
11.2 Chorea
Chorea has been defined as “a state of excessive, spontaneous, irregular, nonrepetitive, brief, rapid, and randomly distributed movements. These movements may vary in severity from restlessness with mild intermittent exaggeration of gesture and expression, fidgeting movements of the hands, unstable dance-like gait to a continuous flow of disabling, violent movements.”
Patients with chorea cannot maintain a sustained posture; when attempting to grip an object, they alternately squeeze and release (“milkmaid’s grip”); when attempting to protrude the tongue, the tongue often pops in and out (“harlequin’s tongue”); patients involuntarily drop objects frequently and voluntarily augment the choreiform movements with semipurposeful movements in order to mask the chorea. Hypotonia is very common in many conditions causing chorea, but strength is unaffected.
Related terms to chorea are: athetosis, choreoathetosis, and ballismus. Athetosis (Greek athetos = not fixed) is a slow form of chorea, where the movements have a writhing (i.e., twisting, snakelike) appearance. Choreoathetosis is essentially an intermittent form (i.e., moderately slow or moderately rapid chorea). Athetosis without chorea is almost always due to perinatal brain injury (i.e., asphyxia, kernicterus). Ballismus (Greek ballismos = jumping about or dancing) is considered a very severe form of chorea presenting with “continuous, violent, coordinated involuntary activity involving the axial and proximal appendicular musculature such that the limbs are flung about.” The movement disorders most often involve only one side of the body (i.e., hemiballismus). More typically occur in the elderly hypertensive and/or diabetic patients as a result of stroke involving mainly the subthalamic nucleus. Hemiballismus due to stroke usually remits spontaneously over 3–6 months.
Chorea may commence at any age. (1) Early infancy, (2) at approximately 1 year (the most common age of onset), and (3) during late childhood or adolescence. The pathophysiology causing chorea is attributed to a degeneration or fixed injuries to the striatum (caudate nucleus, globus pallidus, and putamen), or to a biochemical imbalance affecting these parts of the brain.
11.2.1 Differential diagnosis of chorea
Huntington’s disease (HD) Rare, autosomal dominant, caused by a trinucleotide (CAG) repeat expansion in the gene encoding Huntington on chromosome 4 (4p16.3). The cardinal pathologic findings in HD are neuronal loss and gliosis in the cortex and striatum, especially the caudate nucleus. Onset between 20 and 50 years of age, characterized by chorea, personality disorders, cognitive decline leading to dementia, and psychiatric disorders (▶Fig. 11.1). In 10% cases of HD, the onset is before age 20 (Westphal variant); the disease is then characterized by the combination of progressive parkinsonism, dementia, ataxia, and seizures. As the disease progresses, patients develop increasing rigidity and akinesia. Finally, patient becomes bed ridden with marked weight loss and death occurs 15–20 years from onset. Despite the wide spectrum of clinical manifestations of HD, the diagnosis is now straightforward with genetic testing.
HD-like 2 and other HD-like syndromes
Up to 7% of patients bearing striking resemblance to HD do not have the Huntington gene mutation. Dystonia and parkinsonism appear to be more prominent than in HD. HD-L2 is caused by mutations in the gene encoding juctophilin-3, autosomal dominant, and shows increased prevalence among individuals of African ancestry.
It is an autosomal recessive disorder. The responsible gene, called ATM, is on chromosome 11q. Affected individuals develop telangiectasias by 2–4 years of age on exposed areas of skin (frequent infections, vitiligo, café-au-lait spots, premature aging and scleroderma-like lesions) and conjunctiva; progressive cerebellar ataxia, diminished muscle bulk, atonia, choreoathetosis; decreased or absent IgA, IgE, IgG3, IgG4, and lymphoid tissue; and defective cellular DNA repair leading to induced chromosomal aberrations with increased risk of malignancy, particularly leukemia and lymphoma and infection.
Neuroacanthocytosis (choreoacanthocytosis) syndromes Neuroacanthocytosis (NA) syndromes present in young/mid adulthood with orofacial tics, behavioral changes, psychiatric disease, subtle cognitive dysfunction, chorea, parkinsonism, and lingual-buccal-facial dystonia with lip and tongue biting develop subsequently. A total of 40% of patients have seizures, peripheral motor neuropathy with areflexia, and muscle atrophy. Typical dystonic tongue protrusion on eating strongly suggests this diagnosis. The autosomal recessive type is most common and is due to mutations of VOS13A localized to chromosome 9. Degeneration of the basal ganglia is a consistent feature.
McLoed syndrome: McLeod NA syndrome is similar in presentation to autosomal recessive NA syndromes, with the additional involvement of other organs. Cardiac involvement develops in two-thirds of these patients, elevation of liver enzymes and frank myopathy. It is diagnosed by decreased expression of Kell and Kx antigens on erythrocytes, caused by mutation of the XK gene.
All the NA syndromes are differentiated from:
i. Bassen–Kornzweig syndrome: An autosomal recessive disorder of childhood in which abetalipoproteinemia and acanthocytosis occur along with steatorrhea, retinitis pigmentosa, and cerebellar ataxia
ii. Pallidal degeneration syndrome: Hypobetalipoproteinemia, acanthocytosis, and retinitis pigmentosa, a disease of childhood akin to Hallervorden–Spatz disease and a defect in the gene for pantothenate kinase
Benign familial (hereditary) chorea
Benign hereditary chorea may develop in childhood, and is not associated with cognitive impairment or other significant neurologic abnormalities apart from mild hypotonia and ataxia. It is transmitted by autosomal dominant inheritance; mutations may be found in the gene for thyroid transcription factor 1 (TITF-1, also NKX2.1) or other genes.
Spinocerebellar ataxia (types 2, 3, or 17)
Movement disorders can be seen in several of the spinocerebellar ataxias (SCAs) due to trinucleotide repeat expansions/mutations of a variety of genes. Cerebellar findings are typically present, including eye movement abnormalities and gait ataxia. SCA3 (Machado–Joseph disease), the most common SCA can present with parkinsonism, dystonia, and chorea. Patients with SCA1 and SCA2 may occasionally present with or develop chorea. Parkinsonism, dystonia, and chorea may be seen in SCA17, in addition to the typical phenotype of ataxia, dementia, and hyperreflexia.
Fahr’s disease (idiopathic basal ganglia calcification)
Fahr’s disease refers to a heterogeneous group of disorders defined by the radiologic findings of calcium deposition in the basal ganglia and other regions often including the deep cerebellar nuclei. Dystonia, parkinsonism, chorea, ataxia, cognitive impairment, and behavioral changes may be seen. It is likely that several different genes may be implicated, including those for mitochondrial functions.
Chorea may occasionally be seen in Wilson’s disease but is not common as a presenting symptom. However, it is essential to exclude this treatable disorder by ophthalmological slit-lamp examination, serum ceruloplasmin, and 24-hour copper excretion.
Differential diagnosis: If work-up for this is negative, then McLeod syndrome, tardive dyskinesia or NA syndrome should be considered.
Neurodegeneration with brain iron accumulation
Abnormal brain iron accumulation in the basal ganglia is seen in an increasing number of disorders including, neuroferritinopathy, pantothenate-kinase-associated neurodegeneration, infantile neuroaxonal dystrophy, FA2H-associated neurodegeneration, and aceruloplasminemia. The diagnostic MRI shows the “eye of the tiger.” Clinically, dystonia, parkinsonism, and chorea are characteristic. Retinal degeneration and diabetes mellitus precede these symptoms by about 10 years. Cognitive impairment may be present initially.
There is a number of metabolic disorders in which movement disorders may be seen, typically in combination with other neurologic features. The presentation may vary with age of onset, dystonia, chorea, and encephalopathy being more prominent at younger ages, often precipitated by febrile illness or medication. The associated neurologic and non-neurologic features help guide the evaluation, which may involve assaying blood and urine for amino acids, lymphocytic enzymes, and/or genetic testing.
v. Pyruvate dehydrogenase deficiency
vii. Late onset GM1 gangliosidoses and chronic GM2
viii. Neuronal intranuclear inclusion disease
Occurs due to mutation of hypoxanthine phosphoribosyltransferase resulting in the accumulation of uric acid. It presents at 3–6 months with psychomotor retardation and hypotonia, with subsequent development of spasticity, dystonia, and choreoathetosis. Self-mutilation with biting of the hands and lips is a classical feature.
Mitochondrial causes of chorea (Leigh’s syndrome)
Leigh’s syndrome may be seen with various mutations of mitochondrial DNA. Onset is in early childhood and occasionally adulthood. Presents with acute encephalopathy, psychomotor retardation, hypotonia, spasticity, myopathy, dysarthria, seizures, and dystonia. MRI shows lesions in the thalamus or caudate/putamen.
Sydenham’s chorea (rheumatic chorea)
This condition is seen as a consequence of streptococcal infection (group A β-hemolytic streptococcus) of immune mechanisms—antibodies mistakenly attack cells in the basal ganglia and cause inflammation. Chorea occurs in 26% of children with rheumatic fever between the ages of 7 and 15 years of age. Chorea, hypotonia, dysarthria, and emotional lability are cardinal features. The chorea and psychological disturbances slowly recover over 1–3 months, but may recur. Those who have suffered one or more attacks of Sydenham’s chorea are at particular risk of developing it again in adult life during pregnancy (chorea gravidarum) or when exposed to drugs such as oral contraceptives, digoxin, or phenytoin. The diagnosis is established by the clinical features and cannot be confirmed by laboratory tests. In clinical practice, Sydenham’s chorea is the most common form of childhood chorea, whereas HD and drug-induced chorea account for the majority of adult onset cases. The differential diagnosis is mainly between Sydenham’s chorea, lupus-associated chorea, and drug-induced chorea.
HIV and its complications are the most commonly reported infectious cause of chorea, either as a result of a secondary mass lesion, such as lymphoma or abscess from opportunistic infections (e.g., toxoplasmosis, syphilis, tuberculous meningitis and others) or directly from HIV encephalopathy, or the HIV drug therapy.
New variant Creutzfeldt–Jakob disease should be considered in an adult with a time course of subacute cognitive and motor deterioration over months.
In children, striatal necrosis may occur as a complication of encephalitis from various infectious agents, including measles, mumps, parvovirus, mycoplasma pneumoniae, and herpes simplex.
The basal ganglia may be vulnerable in systemic autoimmune disorders:
Systemic lupus erythematosus (SLE)
Lupus-associated chorea is the initial feature and appears 7 years before the steady and for 3 consecutive years after the appearance of systemic features of lupus (ataxia, psychosis, and seizures). When chorea is the initial feature of lupus, it must be differentiated from Sydenham’s chorea.
Antiphospholipid antibody syndrome (AAS)
Chorea may occur in patients with AAS and no other evidence of SLE.
As new autoantibodies are being identified, it becomes critical to exclude cancer in a patient with a subacute or acute presentation of chorea, in whom other etiologies have been excluded. Renal, small cell lung, breast, Hodgkin’s, and non-Hodgkin’s lymphoma have been reported as causative. Antibodies detected include anti-CRMP-5/CV2, anti-Hu or anti-Yo.
Drug-induced chorea (as a toxic or an idiosyncratic reaction)
Chorea might result from the use of various drugs, and drug-induced chorea is probably the most commonly encountered type of chorea in neurological practice and in the community.
Dopamine receptor blocking agents (phenothiazines, benzamides, butyrophenones)
Patients with chronic use of these agents develop tardive dyskinesia and generalized chorea as well and 50% or more are irreversible.
Antiparkinsonian drugs (L-dopa, dopamine agonists, anticholinergics)
Anticonvulsants (phenytoin, carbamazepine, valproic acid, phenobarbital, gabapentin, lamotrigine)
Central nervous system (CNS) stimulants (amphetamines, cocaine, phenylphenidate, pemoline, and specifically crack—“crack dancing”—after binging)
Calcium channel blockers (verapamil, flunarizine, cinnarizine)
Typical neuroleptics (haloperidol, chlorpromazine, and fluphenazine)
Antiemetics (prochlorperazine and metoclopramide)
Induces reversible chorea when administered in the contraceptive pill or as hormone replacement therapy, with the same mechanism as in chorea gravidarum.
Others (lithium, tricyclic antidepressants, cyclosporin, intrathecal baclofen, intrathecal methotrexate, digoxin)
Cerebrovascular disease is regarded as the most common cause of non-genetic chorea, accounting for 50% of cases. Conversely, chorea is a rare complication of acute vascular lesions (> 1% of cases).
Ischemic or hemorrhagic lesions of the basal ganglia
Arteriovenous malformation (AVM)
Acquired paroxysmal choreoathetosis precipitated by sound and light was attributed to an AVM of the parietal lobe)
Metabolic or toxic encephalopathies
Walker RH. Differential diagnosis of Chorea. Curr Neurol Neurosci Rep 2011;11(4):385–395
Cardoso F, Seppi K, Mair KJ, Wenning GK, Poewe W. Seminar on choreas. Lancet Neurol 2006;5(7):589–602
Wild EJ, Tabrizi SJ. The differential diagnosis of chorea. Pract Neurol 2007;7(6):360–373
Beal ME. In: Danel A, ed. Neuroacanthocytosis Syndromes. Springer; 2005
11.3 Dystonia
Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. The movements may be painful, and some individuals with dystonia may have tremors or other neurologic features. There are several different forms of dystonia that may affect only one muscle, groups of muscles, or muscles throughout the body.
Dystonia can affect many different parts of the body and the symptoms are different depending on the form of dystonia. Early symptoms may include a foot cramp or a tendency for one foot to turn or drag after walking some distance or running, or a worsening in handwriting after writing several lines. Sometimes, both eyes might blink rapidly and uncontrollably; other times, spasms will cause the eyes to close. Symptoms may also include tremor (71%) or difficulties in speaking (12%). The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable or widespread.
The cause of dystonia is not known, but is believed to result from an abnormality in or damage to the basal ganglia or other brain regions that control movement.
One way to classify the dystonia is on the basis of the parts of the body which they affect:
Focal dystonia (is localized to a specific part of the body)
Cervical dystonia (also called spasmodic torticollis or torticollis)
When dystonia affects the muscles of the head, face, and neck (such as blepharospasm) it is called craniofacial dystonia. The term Meige’s syndrome is sometimes applied to craniofacial dystonia accompanied by blepharospasm. Oromandibular dystonia affects the muscles of the jaw, lips, and tongue. This dystonia may cause difficulties in opening the jaw, and speech and swallowing can be affected. Spasmodic dystonia involves the muscles that control the vocal cords, resulting in strained or breathy speech.
Focal dystonias that tend to occur only when undertaking a particular repetitive activity. Examples include writer’s cramp that affect the muscles of the hand and sometimes the forearm, and only occurs during handwriting. Similar focal dystonias have also been called typist’s cramp, pianist’s cramp, and musician’s cramp. Musician’s dystonia is a term used to classify focal dystonias affecting musicians, specifically their ability to play an instrument or to perform. It can involve the hand in keyboard or string players, the mouth and lips in wind players, or the voice in singers.
Generalized dystonias (affect most or all of the body)
There are several genetic causes of dystonia. Some forms appear to be inherited in a dominant manner. Each child of a parent having the abnormal gene will have a 50% chance of carrying the defective gene, sufficient to cause the chemical imbalance that may lead to dystonia. It is important to note the symptoms may vary widely in type and severity even among members of the same family. Different forms of dystonia that may have a genetic cause are as follows:
i. DYT1 dystonia (aka dystonia musculorum deformans or idiopathic torsion dystonia)
A rare form of dominantly inherited with reduced penetrance (30–40%) and variable expression, caused by mutation in the DYT1 gene. This form of dystonia typically begins in childhood, affects the limbs first, and progresses, often causing significant disability.
ii. Dopa-responsive dystonia (DRD) (aka Segawa’s disease)
Individuals typically experience onset during childhood and have progressive difficulty with walking. Some forms of DRD are due to mutations in the DYT5 gene. Patients have dramatic improvement in symptoms after treatment with levodopa.
iii. DYT6 dystonia is caused by DYT6 mutations and is often presents as craniofacial dystonia, cervical dystonia, or arm dystonia. Rarely a leg is affected at the onset.
iv. DYT3 mutation causes dystonia associated with parkinsonism.
v. DYT5 (GTP cyclohydrolase 1), which is associated with DRD
vi. DYT6 (THAP1) associated with several clinical presentations of dystonia
vii. DYT11, which causes dystonia associated with myoclonus
viii. DYT12, which causes rapid onset dystonia associated with parkinsonism
Acquired dystonia (also called secondary dystonia)
Result from environmental or other damage to the brain, or from exposure to certain types of medications. Dystonia can be a symptom of other diseases, some of which may be hereditary. Acquired dystonia often plateaus and does not spread to other parts of the body. Drug-induced dystonia often ceases if the medications are stopped quickly. Some causes of acquired dystonia include:
Cervical dystonia (spasmodic torticollis, wryneck, nuchal dystonia)
It is the most common of the focal dystonias, and most often occurs in middle-aged women more than men. The muscles in the neck that control the position of the head are affected, causing laterocollis 42%, retrocollis in 29%, and anterocollis in 25% of the cases; however, the majority of cases (66%) had a combination of these abnormal postures. The neck muscles produce repetitive, patterned, clonic (spasmodic) head movements or tonic (sustained) abnormal postures of the head. It is commonly called spasmodic torticollis, but since it is not always spasmodic and does not always consist of torticollis (neck turning, wryneck), the term cervical dystonia is preferred. Cervical dystonia often begins slowly and usually reaches a plateau over a few months or years. The most common types of dystonia which affects the neck muscles are:
Idiopathic cervical dystonia (ICD)
It is the most common form of adult-onset (age group of 31–40 years of age) focal dystonia. Although the pathogenesis is idiopathic, following causes have been hypothesized to play a role:
Observations that support the hypothesis of an abnormal gene include: (i) the presence of individuals with adult-onset dystonia in families with childhood-onset dystonia, (ii) adult-onset dystonia may affect multiple generations, and (iii) the prevalence of focal dystonia is very high in families of patients with idiopathic dystonia.
The prevalence of patients with cervical dystonia related to trauma is 5–21%. Posttraumatic onset of cervical dystonia occurred within a few days, never relieved for 4 years and there was absence of family history of focal dystonia. Distinguishing acute cervical trauma from traumatic torticollis may be difficult. Postconcussive syndromes self-limited contrary to acute posttraumatic torticollis is usually a chronic syndrome.
iii. Abnormalities in the lentiform nuclei
Another possible cause of ICD is bilateral abnormalities in the lentiform nuclei, seen as increased echogenity on transcranial sonography, whereas the MRI is normal.
Dystonia secondary to structural causes
iv. Cervical spine abscess (osteomyelitis)
v. Klippel–Feil syndrome (Congenital—when a child is born, the bones in a child’s neck do not form correctly, causing his neck to twist)
i. Fibrosis from local trauma or hemorrhage
iv. Congenital torticollis associated with absence or fibrosis of cervical muscles
i. Vestibulo-ocular dysfunction (CN IV paresis, hemianopia, nystagmus, or labyrinthine disease)
iii. Cervicomedullary malformations
iv. Bobble-head doll syndrome (third ventricular cyst)
vi. Syringomyelia/syringobulbia
vii. Extraocular muscle palsies, strabismus
Suggestive symptoms include previous somatization, abrupt onset, secondary gain, and absence of sensory trick. Psychogenic dystonia is rare and should be diagnosed with caution.
Albanese A, Barnes MP, Bhatia KP, et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol 2006;13(5):433–444
Jankovic J, Tsui J, Bergeron C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat Disord 2007;13(7):411–416
11.4 Torticollis in Children (Head Tilt)
Torticollis is a clinical symptom and sign characterized by a lateral head tilt and chin rotation toward the side opposite to the tilt (▶Fig. 11.2). Torticollis can appear temporarily and go away again. It can also be present at birth (congenital). Both boys and girls get all types of torticollis. The differential diagnosis is different for infants than for children and adolescents. Children, infants, and newborns may acquire torticollis from congenital causes or trauma due to childbirth.
11.4.1 Neonates and infants
Infant torticollis or congenital muscular torticollis
Congenital muscular torticollis is the most common cause of torticollis in infants. Boys and girls are equally likely to develop the head tilt. It can be present at birth or take up to 3 months to develop. No one knows why some babies get torticollis and others do not. Most doctors believe it could be related to the cramping of a fetus inside the uterus or abnormal positioning (such as being in the breech position, where the baby’s buttocks face the birth canal). The use of forceps or vacuum devices to deliver a baby during childbirth also makes a baby more likely to develop torticollis. These factors put extra pressure on a baby’s sternomastoid muscle, causing it to tighten and making it difficult for a bay to turn the neck.
Congenital anomalies of the occipital condyles
Congenital anomalies of upper cervical spine (C1 and C2)
It occurs in infants and toddlers with a family history of migraine and is remitting spontaneously. The cause is not fully understood. It is believed to be a variant closely related to benign paroxysmal vertigo in some infants but not in others.
Abnormal truncal posturing associated with gastroesophageal reflux, neural axis abnormalities, and benign paroxysmal torticollis. Hyperextension or extreme lateral flexion of the trunk occurs during any activity including walking, giving bizarre forms of gait. Effective management of hiatus hernia and reflux leads to complete resolution of the problem.
Klippel–Feil syndrome or hemivertebrae
Klippel–Feil syndrome is present when a child is born (congenital). It presents with a head tilt and may have associated cervicothoracic scoliosis, and troubled hearing since the bones in their ears may not form correctly.
Craniofacial asymmetry resulting from craniosynostosis, so that the faces of some infants with fixed torticollis may look unbalanced or flattened (plagiocephaly). For example, posterior plagiocephaly produces a parallelogram-shaped head while unilateral lambdoid synostosis produces a trapezium-shaped head.
11.4.2 Toddlers and schoolchildren
Torticollis in the older child is most frequently a manifestation of atlantoaxial rotatory displacement resulting from trauma or oropharyngeal inflammation.
Intermittent torticollis associated with headaches, vomiting, or neurologic symptoms may be caused by tumors of the posterior fossa. Benign and malignant neoplasms of the upper cervical spine are rare causes of torticollis in children, and are associated with corticospianl tract signs.
Children with congenital superior oblique palsy tend to tilt their head away from the side of the weak superior oblique muscle to correct diplopia and to restore binocular vision.
Retropharyngeal abscesses and pyogenic cervical spondylitis are unusual infectious causes of torticollis. For most children, torticollis goes away after successful treatment.
Torticollis without associated symptoms/signs
Tic and Tourette syndrome (motor tics, attention deficits, obsessive compulsive behavior)
Karmel-Ross K, ed. Torticollis: Differential Diagnosis, Assesment and Treatment, Surgical Management and Bracing. The Haworth Press New York-London; 1997
Huang MH, Gruss JS, Clarren SK, et al. The differential diagnosis of posterior plagiocephaly: true lambdoid synostosis versus positional molding. Plast Reconstr Surg 1996;98(5):765–774, discussion 775–776
Golden KA, Beals SP, Littlefield TR, Pomatto JK. Sternocleidomastoid imbalance versus congenital muscular torticollis: their relationship to positional plagiocephaly. Cleft Palate Craniofac J 1999;36(3):256–261
11.5 Blepharospasm
The most frequent feature of cranial dystonia is blepharospasm. If the dystonia is limited to the eyelids it is termed essential blepharospasm. Blepharospasm associated with dystonic movements of other muscle groups of the face, neck or limbs, is known as Meige’s syndrome. It affects middle or older age women and it never begins in childhood. Blepharospasm in children is almost always drug induced. In most patients, early symptoms include an increase in the frequency of blinking, dry eye symptoms (foreign-body sensations, grittiness and eye irritation) and photophobia. In 25% of patients, the symptoms begin in one eye, but they become bilateral in almost all cases.
ii. Wilson’s disease (hepatolenticular degeneration)
iii. Hallervorden–Spatz disease
iv. Multiple sclerosis (MS): A disorder which may cause “writhing” muscle movements anywhere on the face, often called myotonia or myotonic contractions. These muscle contractions appear “like a worm crawling under the skin” and do not resemble the tonic or clonic facial muscle spasms.
Brainstem and diencephalic disease
Hemifacial spasm: Characterized by spastic contractions of muscles involving an entire half of the face. Often progresses to show some weakness of the face muscles on the same side, which always follows spasms. Most often due to vascular compression and irritation of the root entry zone facial nerve near the brain stem.
Bell’s palsy/facial nerve injury with aberrant regeneration: After injury, as this nerve recovers, it may grow back in strange ways (so called aberrant regeneration), and cause spasms, something like hemifacial spasm. Repeated episodes of facial weakness on one side of the face or episodes on both sides of the face may indicate a disorder called Melkersson–Rosenthal syndrome. Here facial weakness precedes facial spasm.
Benign eyelid twitch (eyelid myokymia): Tiny muscle contractions generally affecting one eyelid (more often the lower). Twitching is episodic, lasting seconds to hours over minutes to months, but always eventually resolves on its own. Affected with stress, fatigue, and caffeine use.
Gilles de la Tourette’s syndrome, other tic disorders
Miscellaneous rare associations
Seizure disorders (absence status, partial complex)
Progressive external ophthalmoplegia
Schwartz–Jampel syndrome (osteochondromuscular dystrophy): Infants have a characteristic triad, e.g., blepharophimosis, pursing of the mouth, and puckering of the chin.
Psychogenic disorder: Hysterical spasms (blepharospasm is only rarely due to psychogenic factors. The diagnosis is difficult, in view of the response to organic blepharospasm stress its common association with depression and the unusual response of the movements to various stimuli)
Jankovic J, Havins WE, Wilkins RB. Blinking and blepharospasm. Mechanism, diagnosis, and management. JAMA 1982;248(23):3160–3164
Pina-Garza JE. Blepharospasm in Felichel’s Clinical Pediatric Neurology. 7th ed. Elsevier-Saunders; 2013
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