In ophthalmology, apraxia of lid opening (ALO) is an inability to initiate voluntary opening of the eyelid following a period of eyelid closure, with normal function at other times. Manual lifting of the eyelid often resolves the problem and the lid is able to stay open.
ALO was first clearly described as a distinct entity in 1965 as "a nonparalytic motor abnormality characterized by the patient's difficulty in initiating the act of lid elevation present only momentarily at the start of lid opening." [1]
A review of reported cases has shown a 2:1 female to male occurrence, and onset usually in the sixth decade of life. [2]
A person with ALO may complain of occasionally being unable to open the eye at will, typically after prolonged closure. Oftentimes, ALO only persists momentarily and the ptosis resolves upon manually lifting the eyelid. During attempted lid opening, there may be forceful frontalis muscle contraction, backward thrusting of the head, or opening of the mouth noted. [3]
The exact cause of ALO is not yet fully understood. Despite its name, it is not a true apraxia, but thought to be due to a supranuclear origin of abnormal neuronal activity. Voluntary eyelid opening involves the simultaneous activation of the levator palpebrae superioris muscle and the inhibition of the orbicularis oculi muscle. Electromyographic studies [4] [5] [6] [7] [8] have shown that ALO may involve either involuntary levator palpebrae superioris muscle inhibition, persistent pretarsal orbicularis oculi muscle contraction, or both. Hypometabolism of glucose may play a part, and has been documented in the basal ganglia, frontal lobe, and the primary visual cortex in some cases of ALO. [9] [10]
While often an isolated condition, ALO sometimes occurs in conjunction with blepharospasm, [11] [12] [13] which may complicate the diagnosis and treatment. Additionally, several diseases as well as medications have been reported in association with ALO. It has been reported in cases of extrapyramidal disorders, including Parkinson's disease, parkinsonism, progressive supranuclear palsy, [14] hydrocephalus, [15] motor neuron disease, [16] Shy–Drager syndrome, [8] and various lesions in the brain. [17] [18] [9] [10] Medications that have been associated include Lithium, [19] sulpiride, [20] and a meperidine analog, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine. [21]
ALO is often a benign and unilateral condition, and extensive evaluation may not be necessary. The diagnosis may be a clinical diagnosis based on a thorough history and physical exam, and being able to exclude other diagnoses and pathology. Computed tomography (CT) or magnetic resonance imaging (MRI) may be ordered to help determine whether there is a lesion or other pathological cause present in the brain or brainstem. Electromyography may be used to aid the diagnosis.
Botulinum toxin injected into the pretarsal orbicularis oculi muscle has been shown to be beneficial in some cases associated with orbicularis oculi contraction or blepharospasm. [22] [23] Levodopa has been reported to improve symptoms in patients with Parkinson's disease and progressive supranuclear palsy. [24] [25] [26] There have also been reports of improvement with trihexyphenidyl [27] and valproic acid. [28] Surgical treatment may be considered in severe cases or cases that occur with blepharospasm. [29] [30]
A person with isolated ALO has an excellent prognosis. Prognosis for ALO in association with other diseases depends on the underlying condition. When it is drug-induced, ALO may resolve within weeks to months upon cessation of the agent. [19] [20]
Blinking is a bodily function; it is a semi-autonomic rapid closing of the eyelid. A single blink is determined by the forceful closing of the eyelid or inactivation of the levator palpebrae superioris and the activation of the palpebral portion of the orbicularis oculi, not the full open and close. It is an essential function of the eye that helps spread tears across and remove irritants from the surface of the cornea and conjunctiva.
An eyelid is a thin fold of skin that covers and protects an eye. The levator palpebrae superioris muscle retracts the eyelid, exposing the cornea to the outside, giving vision. This can be either voluntarily or involuntarily. "Palpebral" means relating to the eyelids. Its key function is to regularly spread the tears and other secretions on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. A set of specialized hairs known as lashes grow from the upper and lower eyelid margins to further protect the eye from dust and debris.
Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. PSP may be mistaken for other types of neurodegeneration such as Parkinson's disease, frontotemporal dementia and Alzheimer's disease. The cause of the condition is uncertain, but involves the accumulation of tau protein within the brain. Medications such as levodopa and amantadine may be useful in some cases.
The extraocular muscles, or extrinsic ocular muscles, are the seven extrinsic muscles of the human eye. Six of the extraocular muscles, the four recti muscles, and the superior and inferior oblique muscles, control movement of the eye and the other muscle, the levator palpebrae superioris, controls eyelid elevation. The actions of the six muscles responsible for eye movement depend on the position of the eye at the time of muscle contraction.
The orbicularis oculi is a muscle in the face that closes the eyelids. It arises from the nasal part of the frontal bone, from the frontal process of the maxilla in front of the lacrimal groove, and from the anterior surface and borders of a short fibrous band, the medial palpebral ligament.
Parkinson-plus syndromes (PPS) are a group of neurodegenerative diseases featuring the classical features of Parkinson's disease with additional features that distinguish them from simple idiopathic Parkinson's disease (PD). Parkinson-plus syndromes are either inherited genetically or occur sporadically.
Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be distinguished from the more common, and milder, involuntary quivering of an eyelid, known as myokymia, or fasciculation. In most cases, blepharospasm symptoms last for a few days and then disappear without treatment, but in some cases the twitching is chronic and persistent, causing life-long challenges. In these cases, the symptoms are often severe enough to result in functional blindness. The person's eyelids feel like they are clamping shut and will not open without great effort. People have normal eyes, but for periods of time are effectively blind due to their inability to open their eyelids. In contrast, the reflex blepharospasm is due to any pain in and around the eye.
Ocular myasthenia gravis (MG) is a disease of the neuromuscular junction resulting in hallmark variability in muscle weakness and fatigability. MG is an autoimmune disease where anomalous antibodies are produced against the naturally occurring acetylcholine receptors in voluntary muscles. MG may be limited to the muscles of the eye, leading to abrupt onset of weakness/fatigability of the eyelids or eye movement. MG may also involve other muscle groups.
Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both agonist and antagonist muscles contract simultaneously during dystonic movement. Causes of the disorder are predominantly idiopathic. A small number of patients develop the disorder as a result of another disorder or disease. Most patients first experience symptoms midlife. The most common treatment for spasmodic torticollis is the use of botulinum toxin type A.
The tarsi or tarsal plates are two comparatively thick, elongated plates of dense connective tissue, about 10 mm (0.39 in) in length for the upper eyelid and 5 mm for the lower eyelid; one is found in each eyelid, and contributes to its form and support. They are located directly above the lid margins. The tarsus has a lower and upper part making up the palpebrae.
In the management of Parkinson's disease, due to the chronic nature of Parkinson's disease (PD), a broad-based program is needed that includes patient and family education, support-group services, general wellness maintenance, exercise, and nutrition. At present, no cure for the disease is known, but medications or surgery can provide relief from the symptoms.
Ptosis, also known as blepharoptosis, is a drooping or falling of the upper eyelid. This condition is sometimes called "lazy eye", but that term normally refers to the condition amblyopia. If severe enough and left untreated, the drooping eyelid can cause other conditions, such as amblyopia or astigmatism, so it is especially important to treat the disorder in children before it can interfere with vision development.
Marcus Gunn phenomenon is an autosomal dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid. This condition is characterized as a synkinesis: when two or more muscles that are independently innervated have either simultaneous or coordinated movements.
Synkinesis is a neurological symptom in which a voluntary muscle movement causes the simultaneous involuntary contraction of other muscles. An example might be smiling inducing an involuntary contraction of the eye muscles, causing a person to squint when smiling. Facial and extraocular muscles are affected most often; in rare cases, a person's hands might perform mirror movements.
Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis. In other people suffering from mitochondrial disease, CPEO occurs as part of a syndrome involving more than one part of the body, such as Kearns–Sayre syndrome. Occasionally CPEO may be caused by conditions other than mitochondrial diseases.
Paroxysmal exercise-induced dystonia or PED is a rare neurological disorder characterized by sudden, transient, involuntary movements, often including repetitive twisting motions and painful posturing triggered by exercise or other physical exertion. PED is in the class of paroxysmal dyskinesia which are a group of rare movement disorders characterized by attacks of hyperkinesia with intact consciousness. The term paroxysmal indicates that the episodes are sudden and short lived and usually unpredicted, and return to normal is rapid. The number of reported cases of people with PED is very small leading to difficulty in studying and classifying this disease and most studies are limited to a very small number of test subjects.
Dopamine dysregulation syndrome (DDS) is a dysfunction of the reward system observed in some individuals taking dopaminergic medications for an extended length of time. It typically occurs in people with Parkinson's disease (PD) who have taken dopamine agonist medications for an extended period of time. It is characterized by problems such as addiction to medication, gambling, or sexual behavior.
Levodopa-induced dyskinesia (LID) is a form of dyskinesia associated with levodopa (l-DOPA), used to treat Parkinson's disease. It often involves hyperkinetic movements, including chorea, dystonia, and athetosis.
The history of Parkinson's disease expands from 1817, when British apothecary James Parkinson published An Essay on the Shaking Palsy, to modern times. Before Parkinson's descriptions, others had already described features of the disease that would bear his name, while the 20th century greatly improved knowledge of the disease and its treatments. PD was then known as paralysis agitans. The term "Parkinson's disease" was coined in 1865 by William Sanders and later popularized by French neurologist Jean-Martin Charcot.
Bienfang's test is a clinical test used in the diagnosis of ocular myasthenia gravis. It is used in conjunction with other examination techniques such as Cogan's lid twitch test or enhancement of blepharoptosis from prolonged upward gaze. It is a simple, quick, and non-invasive test for ocular myasthenia gravis that can be performed not only by ophthalmologists or neurologists, but also by other physicians evaluating patients with ptosis, diplopia, or other symptoms of myasthenia gravis.