Related concepts:

The Gower Sign, Landouzy-Dejerine Disease, Steinert Disease

Introduction to muscular dystrophy:

Fundraising telethons and vague images of disabled children loom in most parents’ minds when they hear the words “muscular dystrophy.” The truth is that rapid advances in molecular genetic engineering hold promise for children with muscular dystrophy. Support of these efforts makes good sense.

What is muscular dystrophy?

The muscular dystrophies are a group of illnesses that share several things in common. They are all, first and foremost, muscle diseases as opposed to brain or nerve diseases. They all involve the death of individual muscle fibers. They are all hereditary conditions. And they all progress over time (as opposed to cerebral palsy, which doesn’t get worse or better).

Who gets muscular dystrophy?

Duchenne muscular dystrophy is the most common of the muscular dystrophies. It is an X-linked recessive condition, so it occurs in boys whose mothers are carriers. It appears around the world in all ethnic groups. Becker muscular dystrophy is a milder form of the same condition.
Emery-Dreifuss muscular dystrophy is a very rare form of muscular dystrophy that is also an X-linked recessive condition, with affected boys born to mothers who are carriers.
Myotonic muscular dystrophy (Steinert disease) is the second most common type. It is found most often in North America, Europe, and Australia. It is an autosomal dominant condition, which means that when one of the parents has the condition, about half of the children will (both boys and girls). There are no carriers without the illness.
Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine disease) is a very rare form of muscular dystrophy that is also an autosomal dominant condition. When a parent has the condition, about half of the children will. There are no carriers without the illness.
Congenital muscular dystrophy and limb-girdle muscular dystrophy are autosomal recessive conditions. If both of the parents are carriers, about half of the children will be carriers, and about one-fourth of the children will have the disease. If only one parent is a carrier, the disease is not passed on, but about one-fourth of the children will be carriers.
The Fukuyama type of congenital muscular dystrophy is especially common in Japan, but is also found in Europe and the Middle East.

What are the symptoms of muscular dystrophy?

The hallmark symptom of muscular dystrophy is progressive muscle weakness. In classic Duchenne muscular dystrophy, the boys appear normal at birth. Looking back, perhaps they had poor head control compared to their peers. Nevertheless, they roll over, sit, stand, and walk at a typical age. By age 3, the weakness is clear. They will often need to walk their hands up their legs in order to stand up (the Gower sign). They tend to have large calves, and waddle when they walk. With aggressive treatment, most can walk until about age 12, but death usually occurs before adulthood. These boys often also have heart disease. Learning disability or mental retardation are some of the many other symptoms common in this condition.
Becker muscular dystrophy is a milder form of the same condition. The progressive course may take more than twice as long, but the progress is still relentless.
Children with limb-girdle muscular dystrophy appear normal until the school years or even into young adulthood. Weakness develops first in the muscles close to the trunk–around the shoulders and hips. Most can walk until about age 30. Enlargement of the calf muscles is also common in this condition. Intellectual growth is normal.
Children with Enery-Dreifuss muscular dystrophy usually appear healthy until school age. Weakness around the elbows and the ankles is often the first sign. Enlargement of the calf muscles does not occur. Intellectual growth is normal.
Children with congenital muscular dystrophies are noticeably weak at the time of birth. Nevertheless, these tend to be milder forms of muscular dystrophy with a slowly progressive course.
Facioscapulohumeral muscular dystrophy also appears in young babies. The earliest signs are weakness of the face and shoulder muscles. The eyes are often open during sleep.
Myotonic muscular dystrophy may also have symptoms in the first few years, including an upper lip shaped like an upside-down V. Muscles of the face and fingers usually show weakness first.
Depending on the type of muscular dystrophy, complications may also include cataracts, diabetes, heart disease, hypothyroidism, immunodeficiency, mental retardation, scoliosis, seizures, or testicular atrophy.

Is muscular dystrophy contagious?

No.

How long does muscular dystrophy last?

The muscular dystrophies are all lifelong, progressive conditions. Some, such as Duchenne muscular dystrophy, usually lead to death in late childhood, while others, such as Becker muscular dystrophy, commonly allow people to live to age 40.

How is muscular dystrophy diagnosed?

The diagnosis is made by muscle biopsy. It is suspected by the history and physical exam, and by lab tests, such as one for a muscle enzyme called CK. An electromyogram (EMG) is a test of the electrical activity in muscles that may be used to evaluate nerve and muscle conditions.

How is muscular dystrophy treated?

So far, there is no cure for the muscular dystrophies. Aggressive treatment is important to prevent and manage complications. This may include physical therapy and nutritional support. Meanwhile, scientists are searching for a cure or at least for ways to slow progression. Molecular genetic engineering seems to hold the most promise (Expert Opinion on Biological Therapy. 8(8):1051-61, 2008 Aug.).

How can muscular dystrophy be prevented?

Once a child has been conceived with the genes for muscular dystrophy, the disease cannot be prevented.

Related A-to-Z Information:

Arthritis (Juvenile rheumatoid arthritis, JRA), Bowlegs, Cataracts, Cerebral Palsy, Clubfoot, Congenital Heart Disease, Depression, Epilepsy, Fractures, Fragile X Syndrome, HIV, , Polio, Rabies, Rickets, Scoliosis, Sprains, Torticollis, Toxic Synovitis, Type I Diabetes, Undescended Testicle (Cryptorchidism)

Dr. Greene’s Answer:

When kids at that age limp, it is usually wise to have a blood test and an imaging study of the leg to get an idea what is going on.

One of the most common causes of limp and rash is something called toxic synovitis. Toxic synovitis of the hip is the most common form of arthritis in children. It appears suddenly, disappears suddenly, and causes no lasting problems. Thus, it is often called transient synovitis. It typically follows viral infections, and may be caused by the body’s immune response to the virus. For this reason, it is often called postinfectious arthritis. Many viruses can lead to some type of postinfectious arthritis, including adenovirus, chickenpox, CMV, or coxsackievirus.

Related concepts:

Wryneck, Congenital muscular torticollis

Introduction to torticollis:

“What is that lump in my baby’s neck?” “Why does my baby only turn his head to one side?”

What is torticollis?

The Latin word tortus means ‘twisted.’ Collum (collar) means ‘neck.’Torticollis simply means twisted neck. It can have many different causes.

By far the most common cause in young children is muscular torticollis. Here, the neck-strap muscle is injured, either before birth, during birth, or afterward. Bleeding into the muscle may cause a hematoma to form. The muscle may contract over time as the hematoma heals, pulling the head to one side.
The list of other possible causes is quite long, including GE reflux, arthritis, scoliosis, and congenital malformations.

Who gets torticollis?

Muscular torticollis is most common in large babies and following difficult first time deliveries. It is also more common in breech deliveries and in conjunction with congenital hip dislocation.
Children with first time torticollis later in childhood should be carefully evaluated. Most of these turn out to have torticollis from minor neck muscle trauma or from upper respiratory viruses. Nevertheless, some have torticollis as a result of a serious problem such as a tumor.

What are the symptoms of torticollis?

The head is usually tipped to one side, with the chin pointing to the other. The neck may feel tight or stiff. A lump may be felt in the sternocleidomastoid muscle (the muscle that attaches to the breastbone, collarbone, and behind the ear).

Is torticollis contagious?

No. Although some underlying causes of torticollis are contagious.

How long does torticollis last?

How long torticollis lasts depends on the underlying cause. If it comes from a congenital malformation (fused vertebrae or absent muscle) then it will last until successfully treated. If it comes from a brief muscle spasm, the torticollis may occur only briefly.

How is torticollis diagnosed?

Initial diagnosis of torticollis may be made on physical exam. Imaging studies and lab work may be necessary to determine the underlying cause.

How is torticollis treated?

Different types of torticollis require different types of treatment. For congenital muscular torticollis, gentle stretching exercises may be prescribed. There may also be specific instructions for positioning during sleep.
If the condition has another cause, or if the exercises are not working, other treatment may be necessary – possibly including medicines or surgery.
Note: Stretching may be harmful for some types of torticollis.

How can torticollis be prevented?

Usually, torticollis cannot be prevented.

Related A-to-Z Information:

Anorectal Malformations (Imperforate anus), Arthritis (Juvenile rheumatoid arthritis, JRA), Cerebral Palsy, Cleft Lip and Palate, Clubfoot, Congenital Hip Dislocation, Gastroesophageal Reflux, Hernia (Inguinal hernia), Hydrocele, Hydrocephalus, Inconspicuous Penis, Meningitis, Muscular Dystrophy, Polio, Scoliosis, Spina Bifida, Tibial Torsion (Turned-in feet), Undescended Testicle (Cryptorchidism)

Children’s health issues are just the same as adult health issues — only smaller.  In adults, back pain is a common musculoskeletal problem.  In children, back pain should be taken seriously. 

When children under age 10 have back pain that lasts longer than 3 days, they should have an advanced imaging study of the spine.

Results presented at the 1999 annual meeting of the Radiological Society of North America suggested that about 1/3 of these children have significant problems needing specific treatment — even though the regular x-rays were normal!

Dr. Greene’s Answer:

Torticollis comes from two old Latin words: torqueo — to twist, and collum – neck. Torticollis is the name we give to anyone with a twist in the neck, for whatever reason. It is a symptom — not a disease itself.

The list of conditions that can cause torticollis is quite long. His normal neck and spine MRIs and x-rays, coupled with the exams by his orthopedic doctor and at Shriners makes any of the serious causes seem very unlikely.

I have not heard the name intermittent torticollis, but I have heard of benign paroxysmal torticollis, which I suspect is the same thing. Here, the tilting tends to come in episodes caused by muscles spasms — and is usually painful. A spasm can be triggered by a viral infection or by stressing the muscle by position (especially when asleep) or by rapid movement. Some people get spasms when the muscles on one side of the neck get colder than the other — sleeping next to an air conditioner can do that.

One thing that can cause the neck to bend and is often missed is called Sandifer’s syndrome — where kids’ necks bend when they are having reflux (stomach acid sloshing back upwards). This is treated by treating the reflux — not the neck. I believe Sandifer’s syndrome is sometimes associated with hernias.

Episodic posturing of the head to one side may also be seen with seizures. In these cases, anti-seizure medications will often correct the problem. Your doctors will be often be able to determine whether these episodes are seizure-related by examining your son during an episode or by performing an EEG— a test for seizures.

If your son’s doctors have diagnosed your son with benign paroxysmal torticollis, physical therapy is the primary treatment. A program of gentle passive stretching exercises can sometimes prevent episodes and get rid of the ‘bentness’ in-between. Ask your child’s orthopedist about seeing a physical therapist to set up a program. In severe cases, surgical muscle release is performed — but with your son’s great improvement, that sounds quite unlikely.

Dr. Greene’s Answer:

I commend your desire to become an expert on fibrous dysplasia. Since our health is so central to our entire experience of life, becoming knowledgeable about our health is of great practical value. All of us would do well to be at least somewhat informed about nutrition, exercise, and safety measures that work against the major threats to our well-being. Mothers and fathers benefit from learning about parenting and about child development. Each of us stands in a better position if we are informed about our own particular health problems.

Fibrous dysplasia is the most common bone abnormality that occurs during the years of growth and development (as opposed to osteoporosis, the most common bone abnormality during the years of our bodies’ decline). Dysplasia means abnormal development. Fibrous dysplasia is a disease of the bone in which the outer layers of the bone become thin, and the inner bone marrow is replaced by a gritty fibrous tissue containing sharp, needle-like fragments of bone.

Fibrous dysplasia is usually first apparent in late childhood. It can occur in only one bone (monostotic fibrous dysplasia) or in several or many bones (polyostotic fibrous dysplasia). Monostotic fibrous dysplasia is up to six times as common as the polyostotic form (Orthopedics, August 1996). In polyostotic fibrous dysplasia, up to 75% of the skeleton may be involved. Often fibrous dysplasia is discovered when a bone fractures from relatively minor trauma. Unfortunately, fractures through dysplastic bone do not heal well until the fibrous tissue is surgically removed.

For many with fibrous dysplasia, the bony spicules in the marrow cause bone pain, disability, and slowly progressing deformity. Fibrous dysplasia acts like a benign bone tumor that usually continues to grow until the adolescent growth spurt is completed. Once full growth is achieved, the progression of the disease often stops, but people are left with one or more weakened areas of bone. These are sometimes removed surgically, depending on their extent.

When fibrous dysplasia occurs in the jaw, the swelling of the angle of the jaw (sometimes accompanied by upturned eyes from facial fibrous dysplasia), gives a cherubic look to the face. In fact, fibrous dysplasia of the jaw has its own name — cherubism.

Research has linked fibrous dysplasia to genetic mutations causing increased activity of a protein called G alpha s protein. Researchers believe that the mutation causes increased activity of bone dissolving cells. Bisphosphonates are a class of drugs which may work by inhibiting bone breakdown and have been shown to improve the symptoms of fibrous dysplasia. Some patients will require surgical interventions such as the implantation of healthy bone, steel, or titanium to strengthen weakened areas affected by fibrous dysplasia.

As you well know, the current treatment options for fibrous dysplasia are rather crude and after the fact. To me, the most exciting breakthroughs will be in discovering medicines that cure the disease at the root – perhaps by turning off the gene that is responsible for the disease. And who knows, you may be the champion who leads the way to these thrilling discoveries!

Dr. Greene’s Answer:

When Goldilocks entered the house of the 3 bears, she was quick to recognize when the porridge was “too hot” or the chair was “too big” for someone her size. She had the good fortune to happen upon a chair that was “just right,” and she sat down in it. Most of our children are not so fortunate.

Sadly, they are so used to living in a world designed for adults that they don’t even notice when they sit down at a computer that the angles are all wrong. Hours disappear as they sit with rapt attention to the screen, surfing the web or playing their favorite games. They remain unaware that their awkward, unnatural postures are transmitting the wrong information to their growing bodies.

My back aches. . . I have this pain between my shoulders. . . I’ve had this tingling in my hands the past few days. . . My right hand doesn’t seem as strong as it did. . . My lower neck is bothering me. . .

Complaints such as these have become common from adults who sit for too many hours in front of computers with their bodies in incorrect positions. These common injuries develop gradually over time. Called cumulative trauma disorders (CTDs), or repetitive stress injuries (RSIs), they can be caused by repeated, constant, or excessive stress on muscles, tendons, ligaments, bones, and nerves. Today, RSI is the number one health problem in the work environment, resulting in huge costs from absenteeism, loss of productivity, the explosion of workmen’s compensation claims, litigation, eye problems, chronic pain, loss of sensation, and loss of strength.

To combat RSI, the science of ergonomics has come to the fore. Ergonomics is a term taken from the Greek word “ergon,” meaning work, and “nomos,” meaning law. In other words, ergonomics refers to the natural laws of doing work. It’s the science of designing the tools and the environment to fit the worker. Ergonomics began during World War II in the design of aircraft. Now ergonomics helps in the design of computer workstations.

To prevent injuries, ergonomists first determine the activities and anatomy of those using the computers. To do this, they conduct many tests to find out the typical body size and common physical tendencies of the users, such as muscle movement and vision. They use instruments like anthropometers and sliding calipers to measure many aspects of the human body. They conduct simulations to watch how people use the computers.

Based on this research, ergonomists design computer equipment to fit the needs of the users. Ergonomics has been very successful. As a result adults can work more safely, comfortably, and efficiently.

Children’s flexible bodies are in some ways more forgiving than those of adults. My kids can easily sit on the floor in positions that would give me backaches. For most children, it would take many more hours of cumulative trauma than it would for an adult to cause aches or tingling (this can happen, though — it’s amazing how long a kid can stay glued to a computer game without a break). Of greater concern is the impact that improper positioning might have on growth and development. We know that bones continuously remodel themselves during childhood. This remodeling is directed by the positioning, the stresses, and the use of the bones (as well as the nutrients available). Consistent improper positioning can change the length and shape of long bones. While this hasn’t been proven to come from computer use, I’m not aware that anybody has investigated the possibility.

Fortunately, there is more and more attention being paid to children’s computers and work areas in recent years. After all, computers have become a very large part of a typical school-aged kid’s day! Still, most of the equipment used by kids was developed for adults (with some exceptions, of course), and adaptations need to be made to ensure that a child’s positioning is safe and comfortable. Some adjustments are relatively easy to make, and can make an enormous difference to the child.

Here are some of the basic lessons learned from ergonomics for promoting optimal health. They can be applied to both adults and children.

• Adjust the chair so you can sit with your feet flat on the floor and your thighs parallel to the floor. Alternatively, place a foot rest under the chair.
• Use firm pillows to keep child from sitting too far back in chair, or to boost height in a non-adjustable chair.
• The monitor should be below eye level with the focus of attention between 1 and 60 degrees below the horizontal.
• Your desk or table should be about two inches lower than your elbow.
• Elbows should be kept at a 90 to 100 degree angle.
• See to it that there is good support for your hands and forearms when you are typing. You should be able to rest them on a table top, a wrist rest or the arms of your chair.
• While typing, try to avoid bending your wrists for any lengthy period of time. They should be kept in a neutral position — not bent up or down or right or left.
• Don’t hit the keys too hard. Try to develop a light touch, and adjust the keyboard to that end if possible.
• Neck should be straight, not craned over. Shoulders should be relaxed.
• Take breaks every 20 to 60 minutes, even for a minute or two. This is very important. Get up and move around. Avoid remaining in the same position for long periods of time.
• If using a mouse, avoid reaching for it with an extended arm during use.
• Mousing surfaces should be on the same plane as the keyboard and close to the user’s body to eliminate shoulder strain and neck pain. Placing it on alternate sides of the keyboard each week, if possible, will lessen your dominant hand stress. Of course, frequent breaks from using your mouse are very important, as is avoiding long clicks.

There are several comprehensive websites related to children’s ergonomics that are worth checking out. These include http://ergo.human.cornell.edu/cuweguideline.htm (includes guidelines for choosing ergonomic chairs for your children), and http://www.healthycomputing.com/kids/. The latter website also gives tips for avoiding pain secondary to backpacks, videogame use, and even cellular phones!

In the meantime, at the very least we owe it to our children that when teaching them to use computers, we teach them to use them safely and correctly. When we teach children the basic principles of ergonomics, they will come up with some of their own creative solutions (such as putting phone books under their feet to get the correct angle). In doing so, they will not only help their current health and growth, but they will also develop habits that help prevent tomorrow’s problems.

Dr. Greene’s Answer:

No one knows what causes it. We do know that it often follows a viral respiratory infection. It seems to be some kind of allergic reaction to the virus. It has also been seen following Strep throat, prescription medicines, bee stings, chemical toxins, cold exposure, and food allergies. It can occur in epidemics. In the Northern Hemisphere it occurs most commonly between November and February. It is often accompanied by a low-grade fever, and just not feeling well. It most often affects children ages 2 through 10, boys more often than girls. The older the child (or adult), the more likely it is to be serious. We know that it can be life-threatening, but that most children recover. “It” is Henoch-Schonlein purpura (HSP).

HSP is a type of vasculitis — an inflammation of blood vessels — that was named for Drs. Henoch and Schonlein, who each discovered it independently more than 30 years after it was discovered by Dr. Heberden, who got no credit.

Tiny blood vessels in the skin swell and then hemorrhage, giving rise to the characteristic rash of HSP. The rash usually begins with small hives, or red patches, or red bumps, which can appear anywhere on the body, but especially on the legs and buttocks. This rash represents swollen blood vessels, and the spots blanch with pressure, since pressure moves the blood along the vessel. The allergic nature of the rash often makes it itch. As time passes, blood leaks from the swollen vessels, the rash changes from red to a bruised, purple color (hence the name purpura), and the rash no longer blanches when pressed. As the tiny bruises heal they turn to a rust color, and then fade. Each spot lasts for about five days. Often the rash comes in several crops, and a single child may have a rash of a variety of different colors. All children with HSP have the skin rash (by definition). The rash resolves without trace. (“A savvy mom named Beth Anderson wrote and suggested that when her son had HSP, “the term “blood blisters” was the key to describing the rash for those who couldn’t see it in person. Most people have had a blood blister and can relate to the term better than bruises.”)

The skin rash is the most obvious, and most common, finding in HSP — but by no means the most serious. Blood vessels in other parts of the body can also be involved –most frequently in the joints, the intestines, and the kidneys. Rarely, vessels in the muscles, eyes, testicles, lungs, heart, and brain have become inflamed, sometimes leading to serious consequences.

Joint involvement occurs in two thirds of the children. The knees and ankles, particularly, often become swollen, tender, and painful with movement. This arthritis can be quite debilitating, but usually resolves in just a few days. No permanent deformity results, even with the most severe arthritis.

Inflammation of the blood vessels of the GI tract occurs in more than half of the children. Most of these experience abdominal pain, often quite severe. They will often vomit — sometimes vomiting blood. More than half of the children with HSP will have bloody stools. Serious short-term complications most often come from the GI involvement, some of which require observation in the hospital and some require surgery.

Kidney involvement affects between one-fourth and one-half of the children with HSP. They may have blood and/or protein in the urine. They may even have kidney failure. Serious long-term complications most often come from the kidney involvement.

Full-blown HSP may appear suddenly, or different symptoms may appear gradually over several weeks. The order in which the symptoms appear varies. A child might have unexplained abdominal pain, or knee pain, or bloody stools, or blood in the urine for a week before other symptoms appear to bring the correct diagnosis into focus. The diagnosis is usually made when the rash turns purple.

Most children recover fully. The disease may be quite mild and last only 2 or 3 days. For those with moderate to severe symptoms, though, the disease lasts an average of 4 to 6 weeks, with relapses occurring up to a year later (particularly after the child gets another cold or is re-exposed to the offending agent).

Rarely, children die from complications experienced near the time of diagnosis (bowel perforation, hemorrhage, seizure, stroke, etc.). Having made it through the acute crisis, the long-term outcome depends on the extent of kidney involvement. With no kidney involvement, full recovery is the rule. One-fourth of the children with kidney problems will still have detectable problems years later. By 8 years after onset, however, only 2% will still have any kidney problems (Primary Pediatric Care, Mosby, 1992). Unfortunately, up to half of those will ultimately die from chronic renal failure. The long-term prognosis can often be determined from a renal biopsy early on.

There is no specific treatment for HSP. If the initiating trigger is identified for an individual child, everything possible should be done to remove it. If the cause is thought to be a bacterial infection, such as Strep throat, prophylactic antibiotics are often given once the infection is eliminated, to prevent recurrence. Anti-inflammatory drugs, and sometimes immunosuppresive drugs, are used to provide much-needed symptomatic relief. Steroids are controversial – they may cause dramatic reversal of GI or brain involvement, but have not been shown to be very effective for the kidneys.

HSP is a very serious disease. Thankfully, it is also very uncommon. The odds are that your dear little friend will recover from this with nothing to show for it except some bad memories.

Dr. Greene’s Answer:

Many parents share the concern that their children’s feet don’t line up straight. The most common cause of in-toeing in toddlers is internal tibial torsion (the large bone in the calf is rotated inward). Tibial torsion is usually a result of normal positioning of the baby in the tight space of the uterus. Some degree of tibial torsion is normal throughout infancy.

When a child begins to pull to stand, and then to walk independently, tibial torsion usually begins to correct spontaneously. In most children this process is complete within 6 to 12 months after independent walking. Spontaneous correction can continue to occur for years after this. By mid-childhood, a small percentage of children will continue to have significant tibial torsion.

For many years, the standard treatment for internal tibial torsion was the Denis-Browne splint, an 8- to 12- inch bar, worn at night, with the feet facing out at about 45 degrees. This device seemed to work quite well — almost all of the children who wore one experienced slow, steady improvement and then disappearance of their severe tibial torsion. The device worked so well that it was taken on faith. No controlled studies were done. They were felt to be unnecessary.

In June 1991, Heinrich and Sharps published a prospective, randomized, controlled analysis of the Denis-Browne splint (Orthopedics). The splint did work very well. But doing nothing at all worked equally well. Almost all children corrected spontaneously with or without the splint.

Since 1991, many other splints have been designed to “treat” this condition, but no non-surgical treatment has been shown to be any more effective than doing nothing at all for young children with uncomplicated internal tibial torsion (Journal of the American Academy of Orthopaedic Surgeons, 11(5) 2003). Still, old habits die hard, and it is not difficult to find textbooks and doctors who recommend the use of some type of nighttime device. My favorite of these is the recommendation that the child sleep on the back, to let gravity pull the feet outward (face-down children usually point the toes in). This recommendation is inexpensive, non-invasive, and makes some intuitive sense. As far as I know, it has yet to be studied. Some people sew bulk to the front of the pajamas to make it uncomfortable to sleep on the tummy, but I wouldn’t go to this much trouble.

Indications to see a specialist sooner than later include worsening rotation, frequent tripping, pain with walking or difficulty wearing shoes. Otherwise, internal tibial torsion corrects in a majority of children by about age 4 without any need for intervention.

In a minority of children, the feet are still turned inward by more than 15 degrees at age five, spontaneous correction is unlikely. For these children, surgical derotation is an effective treatment. Typically, the best window for this is between 7 or 8 and 10 years of age.

Interestingly, a study published in the summer of 1996 in the Journal of Pediatric Orthopaedics contained good news for those whose internal tibial torsion doesn’t completely correct, but isn’t severe enough to indicate surgery. The fastest runners tend to fall in this category. Top sprinters, in particular, are significantly more likely to be in-toed than the general population.

Note: External tibial torsion is out-toeing caused by outward rotation of the large calf bone. It results from a normal variant position of the baby in the uterus. Like internal tibial torsion, external tibial torsion does not begin to correct until the baby begins to walk. In most cases correction is complete by age 2 or 3.

Dr. Greene’s Answer:

Although arthrogryposis is not a familiar term to most people, arthrogryposis multiplex congenita (AMC) affects about 3 out of 1000 people, or about 750,000 people in the United States alone. The term comes from arthro- (a Greek prefix meaning “joint”) and gryposis (meaning “abnormal curvature”). Children with AMC have joint contractures present at birth. The tissues surrounding the involved joints are abnormally short, making the joints difficult to move. Muscles are often replaced by fat or fibrous tissue.

As noted in a classic pediatrics textbook, arthrogryposis is not a single disease, but a condition that can be the end result of more than 150 different medical syndromes, each with its own cause and its own long-term outlook, but all causing multiple joint contractures. Many of these syndromes are neurologic or muscular diseases, or both. (Nelson Textbook of Pediatrics, 18th ed.)

The most common form of AMC is called amyoplasia, and accounts for more than 40% of children with arthrogryposis. The true cause of this is unknown, but either from decreased nerve function or from decreased muscle function, the baby doesn’t move much in the uterus, leading to contractures of joints in the arms and legs. Typically the elbows are stuck in a straight position, the arms are twisted toward the body, the wrists are flexed, and the thumbs are trapped in the palms. Usually the legs are worse off than the arms.

The cornerstone of treatment for arthrogryposis is physical therapy (to gently stretch the joints). Splinting and serial casting are important tools to progressively stretch the joints and then keep them there — typically, the casts are changed once a week. Surgery to release tight fibrous strands constricting the joints of the lower extremities is indicated if there is not sufficient improvement by the time the child is ready to walk. Surgeries on the upper limbs can be postponed until the child is older.

Most children with arthrogryposis, and with amyoplasia, in particular, do quite well, especially if treated early. These are intelligent but physically challenged children. Some forms of arthrogryposis are more serious. The specific subtype can often be pinpointed with x-rays and blood tests. Sometimes a muscle biopsy or an electrical nerve or muscle conduction study is necessary.

If doctors are concerned about your daughter undergoing general anesthesia, they are probably concerned about several issues. The first is that her muscles may be weak, especially the muscles she uses to breathe. Some children with arthrogryposis have instabilities in their spinal column that may complicate anesthesia for a surgery. Rarely, they may develop malignant hyperthermia, a dangerous rise in body temperature that may be fatal. (Staheli et al. Arthrogryposis, 1998) In the hands of skilled physicians well versed in treatment of arthrogryposis, necessary surgeries may still be performed, but extra caution is needed.

It will be important for you to understand as much as possible about your daughter’s condition. Your internet search tells me that you have already made a great start in this area. Tell her doctors that you understand that arthrogryposis is not a disease, but a descriptive term that includes many different diseases. Press them for details about any underlying conditions they are considering. In order to care for your daughter appropriately, you and her doctors need to become a team. They will contribute their expertise; you can contribute your love, your concern, your knowledge of your daughter, and your daily attention to her needs. Advocate for your daughter. Don’t let anyone leave you out of the loop.