Akinesia

What is Akinesia?

Akinesia is a condition where a person can’t make movements that others can easily see. Sometimes it can cause a delay in movement, freezing in the middle of action, or even a complete stop in movement. This happens when the movement is too small to be seen or it takes a very long time to make the movement. The former often happens because of a severe slowness of movement condition called bradykinesia, which is commonly confused with akinesia. This makes it challenging to tell the difference between the two. In akinesia, the problem lies in not being able to quickly build enough force to start the movement.

Akinesia can be caused by a variety of different factors, and these factors can vary depending on the patient’s age. In adults, akinesia can happen on its own or as a consequence of brain disorders that cause the brain cells to decay over time. If akinesia is seen in a baby before or immediately after birth, it is usually associated with a condition known as fetal akinesia syndrome.

What Causes Akinesia?

Akinesia, a condition characterized by difficulty or inability to initiate movements, can have different causes based on the age group.

In adults, akinesia is mainly linked with two reasons:

* A distinct form of akinesia where the difficulty in movement is just by itself
* Advanced stages of certain disorders that affect the basal ganglia (part of the brain involved with movement) or frontal lobes (another part of the brain):
* Progressive supranuclear palsy (PSP) (also known
as Steele-Richardson-Olszewski syndrome)
* Parkinson’s disease (PD)
* Multiple system atrophy
* Normal-pressure hydrocephalus (a condition where fluid accumulates in the brain)

In contrast, a condition called fetal akinetic syndrome, also known as fetal arthrogryposis or Pena-Shokeir syndrome type 1, can cause akinesia in a fetus. This condition is associated with the widespread presence of contractures (permanent tightening of muscles, skin, and other tissues) across the fetus’s body, leading to reduced movement. This can further result in restricted growth inside the womb, a short umbilical cord, and underdeveloped lungs. This disorder is usually fatal for the fetus, but in rare cases, the baby may survive until birth.

Risk Factors and Frequency for Akinesia

Akinesia, a condition marked by reduced muscular movement, is more commonly related to a type of dementia known as the motor variant of frontotemporal lobe dementia (FTLD) than to deteriorations connected to Parkinson’s Disease (PD). About 30% of confirmed FTLD patients display symptoms similar to Parkinson’s like immobility or stiffness. However, acute akinesia, which is a sudden onset of immobility, is quite rare and occurs in only 0.3% of PD patients mainly due to infections or other stress triggers.

When it comes to children, akinesia is often linked with a condition known as fetal akinetic syndrome, which can result in high death rates while the baby is still in the womb. The likelihood of this syndrome in live births is 1 in 3,000 cases, and over 320 genes have been implicated in its occurrence. This syndrome is more prevalent in Asian, European, and African populations.

• Akinesia is more commonly associated with frontotemporal lobe dementia (FTLD) than Parkinson’s Disease (PD)
• About 30% of FTLD patients show Parkinson’s like symptoms
• Acute akinesia, a sudden lack of movement, is relatively rare and appears in 0.3% of PD patients
• In children, akinesia is often linked to fetal akinetic syndrome, which can cause high death rates in the womb
• The chance of this syndrome in live births is 1 in 3,000, with over 320 genes related to its cause
• This syndrome is more common in Asian, European, and African populations

Signs and Symptoms of Akinesia

Parkinson’s disease (PD) patients with akinesia, or lack of movement, often freeze mid-movement, and they can develop a pattern of rapid, shuffling steps (festination) while walking or talking. This freezing gets worse when they try to walk through narrow spaces, like doorways. Unfortunately, medications for Parkinson’s usually don’t treat these symptoms.

Patients with akinesia due to Progressive Supranuclear Palsy (PSP) often experience stiffness, mainly in the torso, rather than in the limbs. Early signs of this condition include frequent falls because of significant stiffness. However, some unusual signs can also occur, like non-specific dizziness, slower movements, and personality changes. A common symptom related to the eyes is the slowing of rapid eye movements, especially the difficulty looking downwards.

Pregnant individuals carrying a fetus with possible fetal akinesia might experience lesser fetal movement. As the pregnancy progresses, they may have polyhydramnios, a condition wherein there’s too much amniotic fluid, which can be detected by a larger-than-normal measurement of the abdomen.

In live births of babies with fetal akinesia syndrome, the following sequence of signs is frequently observed due to the fetus’s lack of movement:

• Joint contractures in the fetus (limbs in fixed positions)
• Underdeveloped lungs (pulmonary hypoplasia)
• Excess amniotic fluid (polyhydramnios)
• A small lower jaw (micrognathia)

Testing for Akinesia

Akinesia is a condition characterized by difficulty moving or delay in reaction to a command to move. To determine if a person has akinesia, doctors primarily rely on clinical tests, specifically reaction time studies. These measurements can often reveal a delay in simple reaction times while choice reaction times remain normal.

Several types of brain imaging studies can help in evaluating akinesia. These include Magnetic Resonance Imaging (MRI), functional MRI, Single-Photon Emission Computed Tomography, and Positron Emission Tomography.

In a specific type of Parkinson’s Disease characterized by akinesia and stiffness, differences in the connectivity of certain brain regions have been observed. There is increased connectivity in parts of the frontal cortex and decreased connectivity in the anterior lobule of the left cerebellum.

In ‘Pure Akinesia with Gait Freezing’, associated with Progressive Supranuclear Palsy, brain scans show thinning in certain areas, including the frontal regions, insula, supramarginal region, precunial and temporal areas involving the parahippocampal and lingual gyri. Brain scans may also reveal specific atrophy patterns, like the ‘hummingbird sign’. Upon further examination, clumps of a protein named ‘tau’ are often found in the basal ganglia, a part of the brain controlling movement.

Current imaging techniques can’t reveal which neurotransmitters (chemicals that transmit signals in the brain) are involved in akinesia’s development. Future techniques might include pharmacological imaging and complex behavioral tasks combined with movement analysis to provide this information.

Diagnosing akinesia in a fetus requires ruling out other conditions and confirming a normal genetic profile. Doctors can detect signs of fetal akinesia as early as 12 weeks into pregnancy, with symptoms like reduced fetal movement, swelling, or unusual limb positions observable through prenatal ultrasonography.

Treatment Options for Akinesia

Treating akinesia, a condition that affects movement, focuses on managing the progress of the underlying cause rather than curing it. Here are some treatment methods:

• Drug therapy: For patients with Parkinson’s Disease (PD), medications are primarily used to address the problem of decreased dopamine, a chemical that helps transmit signals in the brain.
• Exercise: Resistance exercises have shown to be helpful in improving postural stability, walking, and overall life quality in patients having a version of PD that is marked by rigid muscles and lack of movement.
• Surgery: Deep brain stimulation is a well-researched surgical procedure used for managing akinesia. It aims to enhance dopamine production and alleviate symptoms such as tremors, lack of movement, and stiffness. Severe cases may require other surgeries, such as thalamotomy, pallidotomy, neural implants, or electric stimulation.

For newborns affected by fetal akinesia, the prognosis is generally poor, and treatment mainly aims to provide supportive care. Initially, measures to address underdeveloped lungs are taken. Medicines such as sildenafil and iloprost are used to manage heightened pressures in the lungs. However, after detailed discussion with the parents, the approach may shift to comfort care, focusing on the quality rather than length of life. The newborn may require antibiotics and long-term parental nutrition due to digestive system issues and swallowing difficulties. Any present anomalies in the nervous system, like seizures, or endocrine disorders, like hypothyroidism, have to be treated with anticonvulsant drugs and thyroid hormones, respectively.

What else can Akinesia be?

In adults, akinesia, a condition where one has difficulty starting or continuing movements, can sometimes be confused with:

• Catatonia: This condition typically shows apathy and odd postures, rather than problems starting movements.
• Akinesia arrest reaction: This usually starts and stops and is linked to seizure activity when monitored with an electroencephalogram, which records brain activity.

In newborn babies, it’s necessary to differentiate fetal akinesia syndrome from:

• Osteogenesis imperfecta: This condition is usually linked to multiple fractures and does not come with muscle contractions. Other signs such as blue-colored whites of the eyes, hearing loss through issues with the middle ear, and mild stunting make this diagnosis more probable.
• Potter’s sequence: This is often connected with the absence of one or both kidneys at birth but does not come with muscle contractions.
• Congenital myopathies: These are not typically linked to fetal death but are connected with muscle weakness that progresses over time.
• Congenital myasthenia gravis: An infant with this condition would have drooping eyelids, a weak cry and poor sucking reflex, and general weakness in the facial and swallowing muscles.

If the mother has a history of myasthenia, it’s more likely for an infant to be born with maternal antibodies against the fetal acetylcholine receptor. Other metabolic disorders to consider include Mucopolysaccharidosis III, glycosylation type 1A deficiency, and phosphofructokinase deficiency. Trisomy 18, another potential diagnosis, often presents alongside other defects such as brain malformations, belly button protrusions, or cleft lip/palate.

What to expect with Akinesia

Adult-onset akinesia, a condition characterized by loss of voluntary muscle movement, doesn’t have a definitive cure. However, treatments that manage the symptoms can significantly improve the patients’ quality of life. While mild forms of akinesia aren’t typically life-threatening, severe cases can cause difficulties in swallowing, dysfunction of automatic bodily processes and accidental inhalation of food or liquid into the lungs, all of which can be potentially fatal.

Fetal akinesia syndrome, which affects unborn babies, is usually lethal with about 30% of affected fetuses being stillborn. The long-term outlook depends on the root cause of the condition. Most infants who are born alive with this condition unfortunately die within their first month. Due to its severity, in some countries, the option for late pregnancy termination may be presented to the parents.

Possible Complications When Diagnosed with Akinesia

Fetal akinesia, a condition where a fetus doesn’t move as much as it should, can be very dangerous and can often lead to death within the first month of life. This is because the condition can bring about various health problems which are:

• Pulmonary complications: Issues with lungs, such as underdeveloped lungs (pulmonary hypoplasia), high blood pressure in the lungs (pulmonary hypertension), and a type of lung infection caused by inhaling food or drink into the lungs (aspiration pneumonia).
• Oropharyngeal dysfunction: Dysfunction to the region of the throat, which can lead to pneumonia.
• Neurological complications: Problems related to the brain and nerves, such as seizures and hypothalamic dysfunction.
• Gastrointestinal complications: Issues with the digestive system, for instance, short gut syndrome and improper rotation of the intestine during embryonic development (intestinal malrotation).
• Endocrine dysfunction: Problems with hormone-secreting glands such as underactive thyroid gland (hypothyroidism) from hypothalamic dysfunction.

Akinesia in adults can be a critical emergency situation, often termed as akinetic crises. Other terms used to describe these crises include Parkinsonian hyperpyrexia, neuroleptic-like malignant syndrome, acute akinesia, and malignant syndrome in parkinsonism. This condition spectrum may vary ranging from total motionlessness with difficulty swallowing, high body temperature, dysautonomia (malfunctioning autonomic nervous system), muscle enzymes increase, and mental status changes to merely a struggle or inability to start moving.

Preventing Akinesia

Adult-onset immobility, or akinesia, presents many difficulties for the individual affected and their family. Since the recommended ongoing support therapies like physical therapy and exercise are largely influenced by the patient’s motivation, it’s vital to give advice and make sure patients are encouraged to stick with their therapies over a long period. Another critical aspect is dealing with possible depression in these individuals, which is frequently found in conditions like Parkinson’s disease and similar disorders. It’s very important to ensure these patients receive proper counseling and medication if they are clinically depressed.

For parents who have had a child born or unborn with symptoms suggesting fetal akinesia syndrome, it’s extremely important to carefully monitor any future pregnancies. Early detection while the baby is still in the womb can provide the option of early termination for the parents. This condition can be caused by a variety of factors, which makes it difficult to accurately predict the chance of it happening again. The estimated risk of recurrence can range anywhere from 0% to 25%. After comprehensive discussions with the parents, a less intensive, comfort-focused care approach can be considered, should they wish to.