Athetoid cerebral palsy, or dyskinetic cerebral palsy (sometimes abbreviated ADCP), is a type of

cerebral palsy Cerebral palsy (CP) is a group of movement disorders that appear in early childhood. Signs and symptoms vary among people and over time, but include poor coordination, stiff muscles, weak muscles, and tremors. There may be problems with sensa ...

primarily associated with damage, like other forms of CP, to the

basal ganglia The basal ganglia (BG), or basal nuclei, are a group of subcortical nuclei, of varied origin, in the brains of vertebrates. In humans, and some primates, there are some differences, mainly in the division of the globus pallidus into an extern ...

in the form of

lesions A lesion is any damage or abnormal change in the tissue of an organism, usually caused by disease or trauma. ''Lesion'' is derived from the Latin "injury". Lesions may occur in plants as well as animals. Types There is no designated classifi ...

that occur during brain development due to

bilirubin Bilirubin (BR) (Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates. This catabolism is a necessary process in the body's clearance of waste products that arise from the ...

encephalopathy Encephalopathy (; from grc, ἐνκέφαλος "brain" + πάθος "suffering") means any disorder or disease of the brain, especially chronic degenerative conditions. In modern usage, encephalopathy does not refer to a single disease, but r ...

and hypoxic–ischemic brain injury. Unlike spastic or

ataxic Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of ...

cerebral palsies, ADCP is characterized by both

hypertonia Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature surrounding damage to the central nervous system, namely upper motor neuron lesions. Impaired ability of damaged motor neurons to regulate descending ...

and

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases a ...

, due to the affected individual's inability to control

muscle tone In physiology, medicine, and anatomy, muscle tone (residual muscle tension or tonus) is the continuous and passive partial muscle contraction, contraction of the muscles, or the muscle's resistance to passive stretch during resting state.O’Sull ...

. Clinical diagnosis of ADCP typically occurs within 18 months of birth and is primarily based upon motor function and

neuroimaging Neuroimaging is the use of quantitative (computational) techniques to study the structure and function of the central nervous system, developed as an objective way of scientifically studying the healthy human brain in a non-invasive manner. Incre ...

techniques. While there are no cures for ADCP, some drug therapies as well as

speech Speech is a human vocal communication using language. Each language uses Phonetics, phonetic combinations of vowel and consonant sounds that form the sound of its words (that is, all English words sound different from all French words, even if ...

occupational therapy Occupational therapy (OT) is a global healthcare profession. It involves the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or ''occupations'', of individuals, groups, or communities. The field of ...

, and

physical therapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...

have shown capacity for treating the symptoms. Classification of cerebral palsy can be based on severity, topographic distribution, or motor function. Severity is typically assessed via the

Gross Motor Function Classification System The Gross Motor Function Classification System or GMFCS is a 5 level clinical classification system that describes the gross motor function of people with cerebral palsy on the basis of self-initiated movement abilities. Particular emphasis in cre ...

(GMFCS) or the

International Classification of Functioning, Disability and Health The International Classification of Functioning, Disability and Health (ICF) is a classification of the health components of functioning and disability. The ICF received approval from all 191 World Health Organization (WHO) member states on May 22 ...

(described further below). Classification based on motor characteristics classifies CP as occurring from damage to either the

corticospinal The pyramidal tracts include both the corticobulbar tract and the corticospinal tract. These are aggregations of efferent nerve fibers from the upper motor neurons that travel from the cerebral cortex and terminate either in the brainstem (''co ...

pathway or extrapyramidal regions. Athetoid dyskinetic cerebral palsy is a non-spastic, extrapyramidal form of cerebral palsy (spastic cerebral palsy, in contrast, results from damage to the brain's corticospinal pathways).

Signs and symptoms

ADCP is often characterized by slow, uncontrolled movements of the extremities and trunk. Small, rapid, random and repetitive, uncontrolled movements known as

chorea Chorea (or choreia, occasionally) is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias. The term ''chorea'' is derived from the grc, χορεία ("dance"; see choreia), as the quick movement ...

may also occur. Involuntary movements often increase during periods of emotional stress or excitement and disappear when the patient is sleeping or distracted. Patients experience difficulty in maintaining posture and balance when sitting, standing, and walking due to these involuntary movements and fluctuations in muscle tone. Coordinated activities such as reaching and grasping may also be challenging. Muscles of the face and tongue can be affected, causing involuntary facial grimaces, expressions, and drooling. Speech and language disorders, known as

dysarthria Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. In other words, it is a condition in which problems effectively ...

, are common in athetoid CP patients. In addition, ADCP patients may have trouble eating. Hearing loss is a common co-occurring condition, and visual disabilities can be associated with Athetoid Cerebral Palsy.

Squinting Squinting is the action of looking at something with partially closed eyes. Squinting is most often practiced by people who suffer from refractive errors of the eye who either do not have or are not using their glasses. Squinting helps momentari ...

and uncontrollable eye movements may be initial signs and symptoms. Children with these disabilities rely heavily on visual stimulation, especially those who are also affected by sensory deafness. Cognitive impairment occur in 30% of cases. Epilepsy occur in 25% of cases.

Cause

CP in general is a non-progressive, neurological condition that results from brain injury and malformation occurring before cerebral development is complete. ADCP is associated with injury and malformations to the extrapyramidal tracts in the

or the

cerebellum The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as or even larger. In humans, the cerebel ...

Lesions A lesion is any damage or abnormal change in the tissue of an organism, usually caused by disease or trauma. ''Lesion'' is derived from the Latin "injury". Lesions may occur in plants as well as animals. Types There is no designated classifi ...

to this region principally arise via hypoxic ischemic brain injury or

encephalopathy.

Hypoxic-ischemic brain injury

Hypoxic-ischemic brain injury is a form of

cerebral hypoxia Cerebral hypoxia is a form of hypoxia (reduced supply of oxygen), specifically involving the brain; when the brain is completely deprived of oxygen, it is called ''cerebral anoxia''. There are four categories of cerebral hypoxia; they are, in o ...

in which oxygen cannot perfuse to cells in the brain. Lesions in the

putamen The putamen (; from Latin, meaning "nutshell") is a round structure located at the base of the forebrain (telencephalon). The putamen and caudate nucleus together form the dorsal striatum. It is also one of the structures that compose the basal n ...

and

thalamus The thalamus (from Greek θάλαμος, "chamber") is a large mass of gray matter located in the dorsal part of the diencephalon (a division of the forebrain). Nerve fibers project out of the thalamus to the cerebral cortex in all directions, ...

caused by this type of brain injury are primary causes of ADCP and can occur during the prenatal period and shortly after. Lesions that arise after this period typically occur as a result of injury or infections of the brain.Facts about cerebral palsy
Centers for Disease Control and Prevention. (2012). Cerebral cortex and white matters are often relative spared, so intelligence is often normal.

Bilirubin encephalopathy

Bilirubin encephalopathy, also known as

kernicterus Kernicterus is a bilirubin-induced brain dysfunction. The term was coined in 1904 by Christian Georg Schmorl. Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration ...

, is the accumulation of bilirubin in the

grey matter Grey matter is a major component of the central nervous system, consisting of neuronal cell bodies, neuropil (dendrites and unmyelinated axons), glial cells (astrocytes and oligodendrocytes), synapses, and capillaries. Grey matter is distingui ...

of the central nervous system. The main accumulation targets of

hyperbilirubinemia Bilirubin (BR) (Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates. This catabolism is a necessary process in the body's clearance of waste products that arise from the ...

are the

, ocular movement nucleus, and acoustic nucleus of the

brainstem The brainstem (or brain stem) is the posterior stalk-like part of the brain that connects the cerebrum with the spinal cord. In the human brain the brainstem is composed of the midbrain, the pons, and the medulla oblongata. The midbrain is cont ...

. Pathogenesis of bilirubin encephalopathy involves several factors, including the transport of bilirubin across the

blood–brain barrier The blood–brain barrier (BBB) is a highly selective semipermeable membrane, semipermeable border of endothelium, endothelial cells that prevents solutes in the circulating blood from ''non-selectively'' crossing into the extracellular fluid of ...

and into neurons. Mild disruption results in left cognition impairment, while severe disruption results in ADCP. Lesions caused by accumulation of bilirubin occur mainly in the

global pallidus The globus pallidus (GP), also known as paleostriatum or dorsal pallidum, is a subcortical structure of the brain. It consists of two adjacent segments, one external, known in rodents simply as the globus pallidus, and one internal, known in rod ...

and

hypothalamus The hypothalamus () is a part of the brain that contains a number of small nuclei with a variety of functions. One of the most important functions is to link the nervous system to the endocrine system via the pituitary gland. The hypothalamu ...

. Disruption of the blood–brain barrier by disease or a hypoxic ischemic injury can also contribute to an accumulation of bilirubin in the brain. Bilirubin encephalopathy leading to cerebral palsy has been greatly reduced by effective monitoring and treatment for hyperbilirubinemia in preterm infants. As kernicterus has decreased due to improvements in care, over the last 50 years the proportion of children developing athetoid CP has decreased. In most cases, will have normal intelligence.

Diagnosis

Motor function

Movement and posture limitations are aspects of all CP types and as a result, CP has historically been diagnosed based on parental reporting of developmental motor delays such as failure to sit upright, reach for objects, crawl, stand, or walk at the appropriate age. Diagnosis of ADCP is also based on clinical assessment used in conjunction with milestone reporting. The majority of ADCP assessments now use the

(GMFCS) or the

(formerly the International Classification of Impairments Disease, and Handicaps), measures of motor impairment that are effective in assessing severe CP. ADCP is typically characterized by an individual's inability to control their muscle tone, which is readily assessed via these classification systems.

Neuroimaging

Magnetic resonance imaging Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio wave ...

(MRI) is used to detect morphological brain abnormalities associated with ADCP in patients that are either at risk for ADCP or have shown symptoms thereof. The abnormalities chiefly associated with ADCP are lesions that appear in the basal ganglia. The severity of the disease is proportional to the severity and extent of these abnormalities, and is typically greater when additional lesions appear elsewhere in the deep grey matter or white matter. MRI also has the ability to detect brain malformation,

periventricular leukomalacia Periventricular leukomalacia (PVL) is a form of white-matter brain injury, characterized by the necrosis (more often coagulation) of white matter near the lateral ventricles. It can affect newborns and (less commonly) fetuses; premature infan ...

(PVL), and areas affected by hypoxia-ischemia, all of which may play a role in the development of ADCP. The MRI detection rate for ADCP is approximately 54.5%, however this statistic varies depending on the patient's age and the cause of the disease and has been reported to be significantly higher.

Treatment

Physical and occupational therapy

Physical therapy Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient ...

and

Occupational Therapy Occupational therapy (OT) is a global healthcare profession. It involves the use of assessment and intervention to develop, recover, or maintain the meaningful activities, or ''occupations'', of individuals, groups, or communities. The field of ...

are staple treatments of ADCP. Physical therapy is initiated soon after diagnosis and typically focuses on trunk strength and maintaining posture. Physical therapy helps to improve mobility,

range of motion Range of motion (or ROM), is the linear or angular distance that a moving object may normally travel while properly attached to another. It is also called range of travel (or ROT), particularly when talking about mechanical devices and in mechanic ...

, functional ability, and quality of life. Specific exercises and activities prescribed by a therapist help to prevent muscles from deteriorating or becoming locked in position and help to improve coordination. Occupational therapy interventions for children with CP emphasises function, and therapists assist with activities of daily living, such as feeding, dressing, bathing and toileting, grooming. Various areas of occupation are also considered, and the occupational therapist may assist the child with pencil grasp and handwriting skills and play. The occupational therapist makes use of everyday activities in order to reach a functional outcome.

Speech therapy

Speech impairment is common in ADCP patients. Speech therapy is the treatment of communication diseases, including disorders in speech production, pitch, intonation, respiration and respiratory disorders. Exercises advised by a speech therapist or speech-language pathologist help patients to improve oral motor skills, restore speech, improve listening skills, and use communication aids or

sign language Sign languages (also known as signed languages) are languages that use the visual-manual modality to convey meaning, instead of spoken words. Sign languages are expressed through manual articulation in combination with non-manual markers. Sign l ...

if necessary.

Drug therapy

Medications that impede the release of excitatory neurotransmitters have been used to control or prevent spasms. Treatment with

intrathecal Intrathecal administration is a route of administration for drugs via an injection into the spinal canal, or into the subarachnoid space so that it reaches the cerebrospinal fluid (CSF) and is useful in spinal anesthesia, chemotherapy, or pain man ...

baclofen Baclofen, sold under the brand name Lioresal among others, is a medication used to treat muscle spasticity such as from a spinal cord injury or multiple sclerosis. It may also be used for hiccups and muscle spasms near the end of life. It is ta ...

, a gamma-aminobutyric acid (GABA) agonist, decreases muscle tone and has been shown to decrease the frequency of muscle spasms in ADCP patients.

Tetrabenazine Tetrabenazine is a drug for the symptomatic treatment of hyperkinetic movement disorders. It is sold under the brand names Nitoman and Xenazine among others. On August 15, 2008, the U.S. Food and Drug Administration approved the use of tetrabena ...

, a drug commonly used in the treatment of

Huntington's disease Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unst ...

, has been shown to be effective treating chorea.

Deep brain stimulation

Deep brain stimulation Deep brain stimulation (DBS) is a neurosurgical procedure involving the placement of a medical device called a neurostimulator, which sends electrical impulses, through implanted electrodes, to specific targets in the brain (the brain nucleu ...

(DBS) is a technique that uses electrodes placed in the brain to modify brain activity by sending a constant electrical signal to the nearby nuclei. Treatment of muscle tone issues via deep brain stimulation typically targets the

and has shown to significantly improve symptoms associated with ADCP. The specific mechanism by which DBS affects ADCP is unclear. DBS of the globus pallidus interna improves dystonia in people with dyskinetic CP in 40% of cases, perhaps due to variation in

injuries.

Prognosis

The severity of impairment and related prognosis is dependent on the location and severity of brain lesions. Up to 75% of patients will achieve some degree of ambulation. Speech problems, such as dysarthria, are common to these patients.

References

External links

{{Cerebral palsy Cerebral palsy types Rare diseases