spasticity

Neuromuscular disorders affect your neuromuscular system. They can cause problems with:

• The nerves that control your muscles
• Your muscles
• Communication between your nerves and muscles

These disorders can cause your muscles to become weak and waste away. You may also have symptoms such as spasms, twitching, and pain.

Examples of neuromuscular disorders include:

• Amyotrophic lateral sclerosis
• Muscular dystrophy
• Myasthenia gravis
• Spinal muscular atrophy

There can be different causes for these diseases. Many of them are genetic.This means they are inherited (run in families) or are caused by a new mutation in your genes. Some neuromuscular disorders are autoimmune diseases. Sometimes the cause is unknown.

Many neuromuscular diseases have no cure. But treatments may improve symptoms, increase mobility, and lengthen life.

Cerebral palsy (CP) is a group of neurologic disorders that cause problems with movement, balance, and posture. The first part of the name, cerebral, means having to do with the brain. The second part, palsy, means weakness or problems with using the muscles.

CP can range from mild to severe. The brain damage and the disabilities it causes are permanent. But treatments can improve the lives of people who have the condition. For example, treatments can help to improve their motor skills and ability to communicate.

There are different types of CP:

• Spastic cerebral palsy, which is the most common type. It causes increased muscle tone, stiff muscles, and awkward movements. Sometimes it only affects one part of the body. In other cases, it can affect both arms and legs, the trunk, and the face.
• Dyskinetic cerebral palsy, which causes problems controlling the movement of the hands, arms, feet, and legs. This can make it hard to sit and walk.
• Ataxic cerebral palsy, which causes problems with balance and coordination.
• Mixed cerebral palsy, which means that you have symptoms of more than one type.

CP is caused by abnormal development or damage to the developing brain. When this development or damage happens before birth, it is called congenital CP. Most CP is congenital, and its causes may include:

• Gene changes (variants)
• Brain malformations
• Infections or fevers in the pregnant parent
• An injury to the developing baby

CP can also happen during or after birth. CP that happens more than 28 days after birth is called acquired CP. Its causes can include:

• Brain damage in the first few months or years of life
• Infections, such as meningitis or encephalitis
• Problems with blood flow to the brain, for example from a stroke or abnormal blood vessels
• Head injuries, for example from a car accident, a fall, or child abuse

In some cases, the cause of congenital or acquired CP is unknown.

Certain medical conditions or events that can happen during pregnancy and delivery may increase a baby's risk of congenital cerebral palsy. These may include:

• Being born too small
• Being born too early
• Being born a twin or other multiple birth
• Being conceived by in vitro fertilization (IVF) or other assisted reproductive technology (ART)
• Infections
• Health problems in the pregnant parent, such as thyroid problems and seizures
• Severe newborn jaundice
• Having complications during birth
• Rh incompatibility
• Exposure to toxic chemicals during pregnancy

There are many different types and levels of disability with CP. So the signs can be different in each child. These signs usually appear in the early months of life. They may include:

• Developmental delays. Your child may be slow to reach developmental milestones such as learning to roll over, sit, crawl, or walk.
• Abnormal muscle tone. Your child may seem floppy, or they may be stiff or rigid.
• An unusual posture or favoring one side of the body when reaching, crawling, or moving.
• Stiff or tight muscles and exaggerated reflexes (spasticity).
• Shaking (tremor) of arms, legs, hands, or feet.
• Sudden, uncontrolled movements.

It's important to know that children without CP can also have these signs. Contact your child's health care provider if your child has any of these signs, so you can get a correct diagnosis.

Diagnosing CP involves several steps:

• Developmental monitoring (or surveillance) means tracking a child's growth and development over time. If there are any concerns about your child's development, they should have a developmental screening test as soon as possible.
• Developmental screening involves giving your child a short test to check for motor, movement, or other developmental delays. If the screenings are not normal, the provider will recommend more evaluations.
• Developmental and medical evaluations are done to diagnose which disorder your child has. To make the diagnosis, your provider:
  • Will check your child's motor skills, muscle tone, reflexes, and posture
  • Will ask about their medical history
  • May order lab tests, genetic tests, and/or imaging tests

There is no cure for CP, but treatment can improve the lives of those who have it. It is important to begin a treatment program as early as possible.

A team of health professionals will work with you and your child to develop a treatment plan. Common treatments include:

• Medicines
• Surgery
• Assistive devices such as braces and walkers
• Physical, occupational, recreational, and speech therapy

You cannot prevent the genetic problems that can cause CP. But it may be possible to manage or avoid some of the risk factors for CP. For example:

• If you are pregnant, make sure that you are vaccinated against infections that could cause CP in your developing baby.
• Get regular prenatal care, which can reduce the risk of preterm birth or having a low birthweight baby. It can also help you manage any health conditions that could raise the risk of CP.
• Use car seats for your baby to prevent head injuries that could cause CP.

Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your brain and spinal cord. Leukodystrophies damage the white matter of your CNS. The white matter includes:

• Nerve fibers, also called axons, which connect your nerve cells
• Myelin, a layer of proteins and fatty materials that covers and protects the nerve fibers. It also helps speed up signals between the nerve cells.

When the white matter is damaged, it can slow down or block the signals between nerve cells. This can cause many different symptoms, including trouble with movement, vision, hearing, and thinking.

There are over 50 types of leukodystrophies. Some types are present at birth, while others may not cause symptoms until a child becomes a toddler. A few types mainly affect adults. Most types get worse over time.

Leukodystrophies are caused by genetic changes. These changes are usually inherited, meaning that they are passed from parent to child.

The symptoms of leukodystrophies depend on the type; they can include a gradual loss of:

• Muscle tone
• balance and mobility
• Walking
• Speech
• Ability to eat
• Vision
• Hearing
• Behavior

There can also be other symptoms, such as:

• Learning disabilities
• bladder issues
• Breathing problems
• Developmental disabilities
• Muscle control disorders
• Seizures

Leukodystrophies can be hard to diagnose because there are so many different types which can have different symptoms. Your health care provider may use many tools to make a diagnosis:

• Physical and neurological exams
• A medical history, including asking about family history
• Imaging tests, such as an MRI or CT scan
• Genetic testing to look for genetic changes that could cause leukodystrophies
• Lab tests

There is no cure for leukodystrophies. Treatment focuses on relieving symptoms and providing support. It may include:

• Medicines to manage muscle tone, seizures, and spasticity (muscle stiffness)
• Physical, occupational, and speech therapies to improve mobility, function, and cognitive problems
• Nutritional therapy for eating and swallowing problems
• Educational and recreational programs

Stem cell or bone marrow transplantation can be helpful for a few types of leukodystrophy.

One type of leukodystrophy, CTX, is treatable if it is diagnosed early. It is treated with chenodeoxycholic acid (CDCA) replacement therapy.

NIH: National Institute of Neurological Disorders and Stroke

Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include:

• Visual disturbances
• Muscle weakness
• Trouble with coordination and balance
• Sensations such as numbness, prickling, or "pins and needles"
• Thinking and memory problems

No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk.

There is no specific test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help.

NIH: National Institute of Neurological Disorders and Stroke

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis.

Causes of muscle disorders include:

• Injury or overuse, such as sprains or strains, cramps or tendinitis
• A genetic disorder, such as muscular dystrophy
• Some cancers
• Inflammation, such as myositis
• Diseases of nerves that affect muscles
• Infections
• Certain medicines

Sometimes the cause of muscle disorders is unknown.