Arthrogryposis Multiplex Congenita (AMC)

Arthrogryposis is the name given to the contracture that occurs in various parts of the body before birth. Contracture is a condition where the joints of the body get permanently fixed in a straight or a bent position which restricts the movement of the joints partially or permanently. Congenital contractures can occur in one or multiple parts of the body, the latter is known as Arthrogryposis Multiplex Congenita.

Signs and Symptoms: most of the Arthrogryposis Multiplex Congenita is usually caused by defects in the central nervous system which are usually structural or functional in nature. The signs of Arthrogryposis Multiplex Congenita are usually the following:

1.      Absence of movements around the smaller or larger joints.

2.      Long tube-like limbs which have a soft and doughy feeling.

3.      Clubbed foot or soft tissue webbing around the affected joints.

4.      A groove across the top of the mouth due to the absence of joining of the roof of the mouth.

5.      Long and abnormally slender bones of the limbs.

Although these are the common syndromes of Arthrogryposis Multiplex Congenita, there might be individual specific syndromes which depend on the severity of the disease in that particular individual. There are majorly two types of Arthrogryposis Multiplex Congenita, Amyoplasia and Distal Arthrogryposis which is usually caused by a group of genetic disorders.

Amyoplasia: Amyoplasia is usually one of the most popular forms of Arthrogryposis Multiplex Congenita where the multiple joints are affected along with inward curving of the shoulders extended elbows and flexed wrists. The most affected joints are usually the hips and shoulders. It is also featured by the presence of severely clubbed foot along with birth marks. This disease is usually sporadic and may not appear in any other family members.

Distal Arthrogryposis on the other hand is a sub group of the disease which has 10 sub variants. Other than the joint dysfunction in various parts of the body, the symptoms usually vary from person to person and might be common if occurred in a family. Sheldon-Hall syndrome, trismus-pseudocamptodactyly syndrome, Gordon syndrome, multiple pterygium syndrome and Freeman-Sheldon syndrome are some of the common types of Distal Arthrogryposis that are usually found.

Causes: The main causes of Arthrogryposis Multiplex Congenita has not yet been confirmed and it is said that in most cases it is usually caused by neural or muscular lack of movement in the fetus. Connective tissue problem, maternal illness or limited utero space are also thought to be the problems which leads to Arthrogryposis Multiplex Congenita.

Arthrogryposis Multiplex Congenita can be caused due to affected single genes which can be X-linked traits, autosomal dominant or autosomal recessive. It might also be caused by chromosomal defects or defects in the central or peripheral nervous systems. The reasons may vary from genetic to environmental issues.

The primary reason of this disease is thought to be the lack of movements after the joints begin to develop in a fetus on the 6^th week of pregnancy which causes excessive connective tissue around the joints, leading to Arthrogryposis Multiplex Congenita. This lack of movement may be caused due to abnormal uterus, unavailability of space in the uterus, drugs used by the mother, virus or trauma. Low levels of amniotic fluids might also lead to this condition.

One other cause of Arthrogryposis Multiplex Congenita is the under development of peripheral and central nervous system when the brain and the spinal cord do not close up before the birth of the child. It may also be caused by muscle disorders like dystrophy and mitochondrial defects in the chromosome of the fetus.

Population: Arthrogryposis Multiplex Congenita is usually caused in both male and female population equally where 1 out of 3000 babies are affected by the disease. It majorly occurs in European, Asian and African populations.

Diagnosis: The primary diagnosis of Arthrogryposis Multiplex Congenita is done by observing the physical abnormalities in the child which is then tested to find the underlying cause of the disease. Electromyography and imaging techniques are the most common methods of testing the underlying cause.

Standard Treatments: Arthrogryposis Multiplex Congenita is usually treated with physiotherapy which helps in increasing the movement of the joints that have been affected. In certain cases, surgery might be required in order to initiate the movement of the joints. Genetic therapy may be needed to benefit the individuals. Symptom specific treatments are also available.

Cerebral Palsy Management and Treatment

Cerebral palsy is mainly caused by brain malfunction or brain dysfunction or brain abnormalities which occur before or during or immediately after birth whiles the infants brain is under development.

So let’s look forward how a brain injury hampers or affects the child’s motor functioning and intellectual abilities which is highly dependent on the nature of brain injury, where the damage occurs and many more.

Now a question arises in our mind then;

What are a brain injury, birth injury and brain malfunction?

During the development of the brain or during the birth or after birth the brain injury or brain malformation that occurs points to the main cause of the cerebral palsy. Due to brain damage during brain development, as a result child’s muscle control, muscle co-ordination, muscle tone and reflex posture is affected and hampered. It also hampers child’s motor skills, gross motor skills and oral motor functioning.

Cerebral Palsy is unique to the individual. So the reasons behind the causes the cerebral palsy is:

• · Prenatal disturbance of brain cell migration: Several factors in genetic and environmental factors prevent the brain cells migration to appropriate location for brain development.
•     Prenatal poor myelination of developing the nerve cell fibres: Poor myelin impedes the brain function that forms a protective covering over the nerve fibre that aids in transmission.
•    Perinatal Brain cell death: Events in the birthing processes that ruptures the blood vessels or starve oxygen to the brain.
•    Inappropriate connections between brain cells:  Trauma, asphyxia or any other infections that damage connections developed in the brain.

Cerebral palsy Primary terminology causes:

Brain Development: It shortly occurs after the occurrence of conception, a rapid cell division or cell proliferation takes place from a small group of cells. The tissue strip rolls into the neutral tube, where one end develops in the brain and the other in the spinal cord. The cells form cluster and group and reaches different regions of the brain.  The brain is considered to be fully developed three to five years after birth.

Brain Defects: Irregularities in brain structure typically cause impairment. Defects occur due to several injuries, malformation or any kind of damage. Degree of impairment is very often linked to the severity of damage. Sometimes compensation may occur to bypass the damage areas by the brain. So for this cause early and initial treatment is very necessary.

Brain malformations: It is mainly caused due to abnormal development of the brain. Defects can occur at any time during foetal development specially the first twenty weeks which is mostly vulnerable. Any kind of malformation that occurs during the neural tube can have very serious and permanent consequences. Brain malformation results in several underdeveloped areas, abnormal growth or improper brain division into hemispheres and lobes.

Brain Lesions: Those are defects that occur generally from an injury or disease. It causes several problems during foetal development can include bleeding in brain, infections, asphyxia and many others.  Lesions typically result from an accident or event that causes brain tissue damage and death. 

Cerebral palsy Management and Treatment:

• The main goals of treatment of Cerebral palsy include:
• Enhance or optimize the mobility.
• Try to manage the primary conditions.
•  Control pain
•   Prevent and try to manage the complications, associative conditions and co mitigating factors.
•  Increase social and peer interactions.
•  Provide self-care.
• Increase ability to communicate.
•  Maximize learning potentials.
• Try to offer quality life.

Comprehensive Treatment Plan: The primary condition is referred as the child’s impairment according to the comprehensive treatment plan. It may involve certain challenges like improper muscle tone, unconditional reflexes, posture difficulties, balance problem and other motor nerve functionalities. These conditions can, in turn, create secondary conditions that also require treatment.  But in some cases it’s found that cerebral palsy is complicated, that is it is not caused by brain injury or brain malformation. But it also requires a simultaneous separate treatment. For example, child’s Cerebral Palsy may create certain problems with facial coordination and control which may be considered as primary condition. While the secondary conditions are considered due to the lack in facial muscle control, the child may find it difficult to chew, swallow, or communicate

Numerous medications have been suggested to reduce the difficulties associated with cerebral Palsy. These drugs mainly aim towards spasticity, dystonia, myoclonus, chorea, and athetosis. For example, a drug named baclofen administered either orally or intrathecally is often used for treating.

1.       Botulinum toxin with or without casting: Abobotulinum toxin A (Dysport) is the first botulin toxin to gain FDA approval for the treatment of lower limb spasticity in children aged 2-17 years. Approval was based on a randomized, multicentre, double-blind, placebo-controlled, international Phase III study in 235 paediatric patients aged 2 to 17 years with lower limb spasticity due to cerebral palsy causing dynamic foot deformity. Patients treated with abobotulinum toxin a showed statistically significant improvement in efficacy assessments.

2.       Phenol Intramuscular Neurolysis: Phenol intramuscular neurolysis has been considered another formulation for the medication purpose. For the treatment of large muscles the following neurolysis is performed but phenol therapy is difficult to administer. It is difficult because it is administered along with a nerve stimulator and the method of treatment is really painful.

3.       Anti-parkinsonian, anticonvulsant, anti-dopaminergic, and antidepressant agents: Although anti-parkinsonian drugs (e.g., anticholinergic and dopaminergic drugs) and anti-spasticity agents (e.g., baclofen) have primarily been used in the management of dystonia, anticonvulsants, anti-dopaminergic drugs, and antidepressants have also been tried. The benzodiazepines such as diazepam, valproic acid, and barbiturates listed among the anticonvulsant drugs have been useful in the management of myoclonus or palsy. Therefore drugs like benzodiazepines, neuroleptics, and anti-parkinsonian drugs (e.g., levodopa) have been tried. Benzodiazepines and baclofen are commonly used to manage spastic.

Through MRI’s and CT scan report the initial and primary treatment should be done. Together this will help the doctors to treat the brain damage and diagnose the cerebral palsy. Treatment therapy and care plans are then made to help a child reach the future potential and safe treatment.

Kinesio Taping, Advanced MRI & Progress in Stem Cell Treatment: New Hopes for Cerebral Palsy Treatment

Cerebral Palsy is one of those neurological disorders which occurs due to any kind of injury or mal function to the child’s brain while it is still under development within the womb. It causes improperly developed brain that causes a problem in the movement and muscle condition of the affected children along with the posture and balance of the victim.

Recognizing Signs of Cerebral Palsy in a Child

There are various treatments available for Cerebral Palsy which includes the likes of medicines, therapies, certain surgical procedures and various alternative medicines which helps in betterment of the condition of the victim by loosening the muscles and also rectifying the posture of the victims along with the balance problem that occurs.

But in current years, three treatments of the Cerebral Palsy have grabbed some duly deserved attention and are doing wonders in the said field. We will discuss three such treatment methods which are said to be working like wonders on Cerebral Palsy patients.

Kinesio Taping:  

When it comes to motor functions, which is effected in Cerebral Palsy, equilibrium plays a very vital role in the maintenance of the same. Equilibrium is an essential part of body orientation and balance when a person is either sitting or standing. Hence, when a child is effected by Cerebral Palsy, postural control becomes a vital part of his/ her development.

Maintain postural control in a Cerebral Palsy patient becomes very difficult or complex in nature. Although there are different methods to tackle it, like equine assisted therapy, exercises, postural control insoles and physiotherapy, it sometimes becomes rather difficult to achieve the task.

Researchers are currently focusing on techniques on improving the posture specially when the Cerebral Palsy patient is sitting and kinesio taping has been in the limelight for quite some time now. It is being evaluated against neuro muscular electrical stimulation.

But what is kinesio taping method? Kinesio taping is basically a kind of rehabilitation which helps in providing support to the joints and the muscles. A special kind of latex free tape is attached to various parts of the body of a Cerebral Palsy patients which helps in lifting the skin of the patient, microscopically. This skin elevation helps in reduction of inflammation and pain in the somatosensory system of the patient, thus helping in the treatment of a number of conditions in orthopedics, neurological and neuromuscular ailments.

Kinesio taping treatment mostly on the condition of the patients and may remain at one place for days. This therapy is very well known to treat sports injury and are often used by athletes. Currently it is being used to relieve the pain of Cerebral Palsy too.

In the recent years, there has been some comparisons among kinesio taping, neurodevelopment techniques and neuromuscular electro simulations.

Both neurodevelopment technique and neuromuscular electro simulations have been around for quite sometimes as a proven treatment for patients with Cerebral Palsy. In the former helps in development of posture and movement of the kids with Cerebral Palsy. In neuromuscular electro stimulation uses mild electric contact in order to help patients with muscular activation along with body alignment and weight shifts. Both the treatments are quite effective when it comes to the treatment of Cerebral Palsy, however, researchers are hoping to take it a step ahead.

In Ankara Physical Medicine and Rehabilitation Training and Research Hospital, Dr. Murat Ersoz, experimented with the three methods on 75 kids with Cerebral Palsy to check out the effectivity of the three procedures. The kids were divided in groups of 25 each and each group was subjected to a single type of treatment method. The main aim of the study was to find out which one of kinesio taping, neurodevelopment technique and neuromuscular electro simulations is most effective when it comes to Cerebral Palsy treatment.

After studying each group for four weeks of treatments, Dr. Ersoz found out that of the 3 kinds of treatment applied, neuromuscular electro stimulations were the most effective one, although all the treatments showed marked development in the posture of the kids. Dr. Ersoz also concluded that kids undergoing neurodevelopment treatment should be also given neuromuscular electro stimulation or kinesio taping for faster muscular developments.

All the three methods of treatment are easy to deliver and non-invasive in nature and has substantial benefits in the Cerebral Palsy conditions. Kinesio taping further helps by preventing any kind of injury to the body and improves circulation of blood which heightens the healing capability of the body too.

Advanced MRI:

Magnetic resonance imaging or MRI has been a standard procedure for detection of Cerebral Palsy for generations. It has proved to be one of the most important diagnostic tools when it comes to Cerebral Palsy. However, conventional MRI has certain limitations as it fails certain aspects of the brain.

In recent years, a more advanced MRI technique known as the quantitative MRI is being used to detect Cerebral Palsy as the method is said to be more precise, comprehensive and sensitive when it comes to detection of Cerebral Palsy, but the usage of this method is not very popular.

Doctors are of the opinion that quantitative MRI will be a more comprehensive method of decision making when it comes to the diagnosis, prognosis establishment and appropriate rehabilitation program detection when it comes to Cerebral Palsy.

Human brain is made of a special kind of tissue called Grey Matter which helps in the processing of information available in the brain. The conventional and quantitative MRI techniques differ in the way they detect these Grey Matters.

Researchers found out that studying the Grey Matter was very effective in detection and treatment of Cerebral Palsy. They use a technique called voxel based morphometry to study the ratio between the Grey Matter and White Matter present in the brain along with the volume of the brain. Patients or kids with Cerebral Palsy had reduced volume of brain along with low amount of Grey Matter and Cerebellum. The kind of ratio these shared could shed light on the kind of birth injury that the brain has encountered and also the most effective treatment for the same.  

Researchers found out that patients with Cerebral Palsy had reduced volume of Grey Matter which suggested damages and neural degeneration. The motor dysfunction along with the impairment of speech and mental retardness of the patients in question were directly relatable to the enlargement of veins in the brain.

The problem with Cerebral Palsy is that it is often not detected for a considerable duration of time. Hence it becomes very important to detect the specific type of injury so that proper treatment can be ensured for the same. quantitative MRI helps in exact birth injury detection as it offers much detailed analysis of the pathophysiological condition of Cerebral Palsy.

Researchers are of the opinion that quantitative MRI will hugely enhance the treatment of Cerebral Palsy as better diagnosis and prognosis of the disease will invariably ensure that roper rehabilitation therapy for improvement of motor impairment or language and speech therapy is inflicted on the patient. The efficient, comprehensive and precise detection of causes of Cerebral Palsy in patients by quantitative MRI will also help in creating customized therapy for the patients.

Progress in Stem Cell Treatment:

Cerebral Palsy treatment has also gained a good amount of light via the progress in the stem cell treatment techniques. There have been several studies in the field of treatment of Cerebral Palsy with the help of stem cells of the patients which has shown considerable development of the patient’s conditions than that is usually seen.

Trials of stem cell study at the Duke University in which children with birth asphyxia were treated with their cord blood (which contains stem cells) to prevent or diminish the Cerebral Palsy along with cognitive delay in kids with damaged brain. The study shows that these children have developed far better than those who are receiving alternative treatment in the same field.

There are other studies, one in Australia, where the stored cord blood of Cerebral Palsy patients is used for the treatment. These studies are being done on older children of the age 1 to 10 years too.

However, people or patients who don’t have their cord blood stored may face some problems when it comes to this kind of Cerebral Palsy treatment. However, there are studies by neurosurgeons and neuroscientists who are conducting research on generating cord cells of patients who have not stored them for future use. There are various kinds of studies done which shows the development of a special kind of brain stem cell called Doublecortin positive cells which are now being studied upon. Although these studies are restricted to monkeys only, researchers have good faith in its success for human beings too.

There are also methods in which the bone marrow of the patient is used for the preparation of brain cells that will ultimately be used for the benefit of Cerebral Palsy patients. One such research has shown that bone marrow can be used for the preparation of brain stem cells which can be utilized for slowing down the progression of Multiple Sclerosis disease.

Although there are certain conventional and proven methods of treating Cerebral Palsy present in the medical world, it is exciting to see that the medical researchers are taking interest in further improvement of the treatment techniques. With the enhancement of the techniques and combination of several methods of treatment, Cerebral Palsy will be effectively treated in the near future and we hope that the kids will be able to lead a healthy and normal life like all of us.