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Bone Diseases

  • Fibrous Dysplasia - Fibrous dysplasia is a chronic disorder of the skeleton that causes expansion of one or more bones due to abnormal development of the fibrous, or connective, tissue within the bone. The abnormality will cause uneven growth, brittleness and deformity in affected bones. Some patients have only one bone affected (monostotic), whereas other patients have numerous bones affected (polyostotic).
  • Osteoporosis - Osteoporosis, or porous bone, is a disease characterized by low bone mass and structural deterioration of bone tissue, leading to bone fragility and an increased susceptibility to fractures of the hip, spine, and wrist. Men as well as women suffer from osteoporosis, a disease that can be prevented and treated.
  • Paget's Disease of Bone - Paget's disease is a chronic disorder that typically results in enlarged and deformed bones. The excessive breakdown and formation of bone tissue that occurs with Paget's disease can cause bone to weaken, resulting in bone pain, arthritis, deformities, and fractures. Paget's disease may be caused by a "slow virus" infection, present for many years before symptoms appear. There is also a hereditary factor since the disease may appear in more than one family member.
  • Osteogenesis Imperfecta - Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized forms of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or as many as several hundred fractures in a lifetime.
  • Hearing Loss and Bone Disorders - For people with metabolic bone disorders such as Paget's disease of bone or osteogenesis imperfecta, hearing loss is an often overlooked yet serious handicap. To understand the nature of hearing loss in individuals with metabolic bone disorders, it is important to first understand the basic mechanism of hearing.
  • Hypophosphatasia - Hypophosphatasia is one of several disorders that resembles osteogenesis imperfecta. It is an inherited metabolic (chemical) bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP). Enzymes are proteins that break down other chemicals in the body so the body can use them. ALP is normally present in large amounts in bones and the liver. In hypophosphatasia, abnormalities in the gene that makes ALP lead to the production of inactive ALP.
  • Myeloma Bone Disease - Myeloma means, literally, a "tumor composed of cells normally found in bone marrow." The majority of patients with myeloma develop destructive bone lesions, also known as osteolytic bone lesions. These lesions occur primarily in the vertebrae, the ribs, the pelvis, and the skull. They occur in the red bone marrow where nests of myeloma cells accumulate. Myeloma cells do not have a direct effect on the skeleton; rather, they cause bone destruction by producing signals that activate normal osteoclasts to resorb bone.
  • Osteopetrosis - Osteopetrosis is a congenital condition present at birth in which the bones are overly dense. This results from an imbalance between the formation of bone and the breakdown of bone, both of which are necessary in the development and maintenance of normal bone. In osteopetrosis, the cells that break down bone, or the osteoclasts, usually are either fewer in number or are ineffective in breaking down bone.
  • Primary Hyperparathyroidism - Primary hyperparathyroidism is a hormonal problem due to one or more parathyroid glands producing too much parathyroid hormone. Parathyroid glands, four small glands located in the neck near the thyroid gland, keep blood calcium from falling below normal. Rarely, there are more than four of these glands, and they may be in other parts of the neck or in the chest.
  • Bones, Muscles and Joints-The musculoskeletal system - Every time you walk your child to school, settle into a chair for a good-night story, or wrap your arms around your child in a hug, you're using your bones, muscles, and joints. Without these important body parts, you and your child wouldn't be able to stand, walk, run, or even sit.
  • Bone Markers - Throughout your lifetime, old bone is constantly being removed (resorption) and replaced by new bone (formation). During early childhood and in the teenage years, new bone is added faster than old bone is removed. As a result, bones become larger, heavier, and denser. Bone formation happens faster than bone resorption until you reach your peak bone mass (maximum bone density and strength), around age 24.
  • Glossary of Orthopedic Diagnostic Tests - Orthopaedic surgeons use a variety of diagnostic tests to help identify the specific nature of your musculoskeletal injury or condition. Orthopaedists also use results of these tests to plan an appropriate course of treatment. Here are some of the most frequently used diagnostic tests for musculoskeletal injuries and conditions.
  • Find an Orthopedist - This page allows you to search for an orthopedist by last name and optionally first name, city, state, zip code, and country. You can also search by a combination of fields.
  • Bone and joint infections - Your bones and joints, like nearly every part of your body, can fall prey to infection. Joint infections (septic or infectious arthritis) can damage cartilage and tissue within days. Bone infections, osteomyelitis (os-te-o-mi-uh-LI-tis), may fester for years and become debilitating if untreated.
  • Klippel-Feil Syndrome - Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine.
  • McCune-Albright Syndrome - The McCune-Albright syndrome is named for the two physicians who described it over 50 years ago. They reported a group of children, most of them girls, with an unusual pattern of associated abnormalities: bone disease, with fractures, asymmetry and deformity of the legs, arms, and skull; endocrine disease, including early puberty with menstrual bleeding, development of breasts and pubic hair and an increased rate of growth; and skin changes, with areas of increased pigment distributed in an asymmetric and irregular pattern.

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Brachial Plexus/Erb's Palsy

  • Overview of Brachial Plexus Palsy - A Brachial Plexus Injury is a nerve injury. The nerves that are damaged control muscles in the shoulders, arm or hand. Any or all of these muscles may be paralyzed.
  • Information - If your newborn's arm is notably weak or completely paralyzed, your child may have Brachial Plexus Palsy (BPP), also known as Erb's Palsy or Brachial Plexus Injury (BPI). The cause of this injury is usually the stretching of one (or both) sides of the neck during a difficult delivery.
  • United Brachial Plexus Network - The United Brachial Plexus Network strives to inform, support, and unite families and those concerned with brachial plexus injuries and their prevention worldwide.
  • Brachial Plexus Injury Assessment - Clinical Localizing Signs of Brachial Plexus Injuries
  • Can Shoulder Dystocia Be Prevented? - While shoulder dystocia (SD) is unanimously regarded as the “Nightmare of the Accoucheur”, it simply denotes difficult delivery of the shoulders following the delivery of the head. Fetal morbidity, in particular brachial plexus injury (BPI), was considered avoidable if SD could be prevented. Important lines of evidence that suggest that BPI is not associated with SD lead to a plausible antenatal etiology for this morbidity. Thus, avoiding SD will not avoid BPI.
  • Taking "All Fours" a Little Further (Shoulder Dystocia) - Ina May Gaskin's suggestion to get a woman into an "all fours" position when faced with suspected shoulder dystocia made a lot of sense to me. I incorporated it into my practice and it is now the first thing I try when I see one of those fat little faces creeping out over mother's perineum.

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Cerebral Palsy

  • Overview - Cerebral palsy is an umbrella-like term used to describe a group of chronic disorders impairing control of movement that appear in the first few years of life and generally do not worsen over time. The disorders are caused by faulty development of or damage to motor areas in the brain that disrupts the brain's ability to control movement and posture.
  • Hopes through Research - In the 1860s, an English surgeon named William Little wrote the first medical descriptions of a puzzling disorder that struck children in the first years of life, causing stiff, spastic muscles in their legs and, to a lesser degree, their arms. These children had difficulty grasping objects, crawling, and walking. They did not get better as they grew up nor did they become worse. Their condition, which was called Little's disease for many years, is now known as spastic diplegia. It is just one of several disorders that affect control of movement and are grouped together under the term cerebral palsy.
  • Spasticity - Spasticity is a condition in which certain muscles are continuously contracted. This contraction causes stiffness or tightness of the muscles and may interfere with movement, speech, and manner of walking. Spasticity is usually caused by damage to the portion of the brain or spinal cord that controls voluntary movement.
  • Types - All children with cerebral palsy have damage to the area of the brain that controls muscle tone.  As a result, they may have increased muscle tone, reduced muscle tone, or a combination of the two (fluctuating tone).  Which parts of their bodies are affected by the abnormal muscle tone depends upon where the brain damage occurs. There are three main types of cerebral palsy...
  • Statistics - Because cerebral palsy influences the way children develop, it is known as a developmental disability.  In the United States today, more people have cerebral palsy than any other developmental disability, including Down syndrome, epilepsy, and autism.
  • Definition - Cerebral palsy is a term used to describe a group of chronic conditions affecting body movements and muscle coordination.  It is caused by damage to one or more specific areas of the brain, usually occurring during fetal development, or during infancy.
  • Glossary - Orthopedic surgeons use a variety of diagnostic tests to help identify the specific nature of your musculoskeletal injury or condition. Orthopedists also use results of these tests to plan an appropriate course of treatment. Here are some of the most frequently used diagnostic tests for musculoskeletal injuries and conditions.
  • Frequently Asked Questions and Answers - I am a physical education teacher and we have a five year old cp student. Are there any limitations that we should be aware of before we sit and talk with her parents? ...
  • Causes - Why does your child have cerebral palsy?  The simplest answer to this question is because your child has brain damage.  This leads naturally into the second question: Why does your child have brain damage?  There are many possible answers to this second question, because there are many reasons children can sustain brain damage.
  • History - Cerebral palsy is not a new disorder.  There have probably been children with cerebral palsy as long as there have been children.  But the medical profession did not begin to study cerebral palsy as a distinct medical condition until 1861.  In that year, an English orthopedic surgeon, Dr. William John Little, published the first paper describing the neurological problems of children with spastic diplegia.

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Hydrocephalus

  • Hydrocephalus - Hydrocephalus is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as "water on the brain," the "water" is actually cerebrospinal fluid (CSF) -- a clear fluid surrounding the brain and spinal cord.
  • Normal pressure hydrocephalus - Normal pressure hydrocephalus (NPH) is an abnormal increase of cerebrospinal fluid (CSF) in the brain's ventricles, or cavities. It occurs if the normal flow of CSF throughout the brain and spinal cord is blocked in some way.
  • Overview - In hydrocephalus too much fluid builds up, causing abnormal enlargement of the cavities in the brain (ventricles) that contain CSF. Too much CSF in the ventricles can put increased pressure on the brain, potentially damaging the brain.
  • Signs and symptoms - Age, how far the disease has progressed and how well a person can tolerate increased cerebrospinal fluid pressure all affect the signs and symptoms. Babies may better tolerate increased CSF pressure because the bones of their skulls haven't completely fused together, and thus their skulls have more flexibility to handle the pressure.
  • Causes - Hydrocephalus can be present at birth (congenital hydrocephalus) or you can develop it later (acquired hydrocephalus). Hydrocephalus results when the flow of cerebrospinal fluid is disrupted or when your body doesn't absorb CSF properly.
  • Risk factors - Premature infants have an increased risk of intraventricular hemorrhage in which severe bleeding within the ventricles of the brain can lead to hydrocephalus. Other problems that can occur during pregnancy may increase an infant's risk of developing hydrocephalus, including intrauterine infection or a disorder involving incomplete closure of an infant's spinal column (myelomeningocele).
  • Screening and diagnosis - Your doctor may diagnose congenital hydrocephalus in your unborn child during a routine prenatal ultrasound, but it's often discovered during infancy or early childhood. Your doctor may suspect hydrocephalus before other signs and symptoms appear if your infant has a large head that seems to be rapidly increasing in size.
  • Complications - The severity of hydrocephalus depends on the time of onset and whether the disease is progressive. If the condition is well advanced at birth, major brain damage and physical disabilities are likely. In less severe cases, with proper treatment, it's possible to have a nearly normal life span and intelligence.

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Muscular Dystrophy

 

  • Types - Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are nine types of muscular dystrophy, but in each type there is an eventual loss of strength, increasing disability, and possible deformity.
  • Muscular Dystrophy Association - The Muscular Dystrophy Association is a voluntary health agency — a dedicated partnership between scientists and concerned citizens aimed at conquering neuromuscular diseases that affect more than a million Americans.
  • Muscular Dystrophy Information Page - From the National Institute of Neurological Disorders and Stroke: The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the 3 most common types are Duchenne, facioscapulohumeral, and myotonic.
  • Major characteristics of the 9 types of Muscular Dystrophy - MYOTONIC dystrophy (DM), also known as Steinert's disease, is the most common adult form of muscular dystrophy. Its name underscores an unusual symptom found only in this form of dystrophy—myotonia — which is similar to a spasm or stiffening of muscles after use...
  • Creatine Kinase Test: Almost everyone with a neuromuscular disorder has had, or will have, a creatine kinase test. But what exactly is creatine kinase (CK), and why are its levels measured in neuromuscular diseases?

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Poliomyelitis

  • Poliomyelitis Definition: Poliomyelitis, often called polio or infantile paralysis, is an acute viral infectious disease spread from person to person, primarily via the fecal-oral route.
  • World Health Organization information pages on Poliomyelitis - Poliomyelitis (polio) is a highly infectious viral disease, which mainly affects young children. The virus is transmitted through contaminated food and water, and multiplies in the intestine, from where it can invade the nervous system. Many infected people have no symptoms, but do excrete the virus in their faeces, hence transmitting infection to others.
  • Poliomyelitis: Overview, Symtoms, Treatment, & Prevention - University of Maryland Medical Center's website section on poliomyelitis.

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Spina Bifida

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Spinal Cord Injury

  • Information & Resources - Any damage to the spinal cord is a very complex injury. People who are injured are often confused when trying to understand what it means to be a person with a spinal cord injury (SCI). Will I be able to move my hands? Will I walk again? What can I do? Each injury is different and can affect the body in many different ways.
  • Information on Assistive Technology - BLEDATA provides objective information on assistive technology and rehabilitation equipment available from domestic and international sources to consumers, organizations, professionals, and caregivers within the United States. We serve the nation's disability, rehabilitation, and senior communities.
  • What is Spinal Cord Injury - A spinal cord injury usually begins with a sudden, traumatic blow to the spine that fractures or dislocates vertebrae. The damage begins at the moment of injury when displaced bone fragments, disc material, or ligaments bruise or tear into spinal cord tissue. Most injuries to the spinal cord don't completely sever it. Instead, an injury is more likely to cause fractures and compression of the vertebrae, which then crush and destroy the axons, extensions of nerve cells that carry signals up and down the spinal cord between the brain and the rest of the body. An injury to the spinal cord can damage a few, many, or almost all of these axons. Some injuries will allow almost complete recovery. Others will result in complete paralysis.

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Spinal Muscular Atrophies

  • Spinal Muscular Atrophies - Spinal muscular atrophy (SMA) is a genetic, motor neuron disease caused by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles. Weakness is often more severe in the legs than in the arms.
  • Kennedy’s Disease - Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called spinal muscular atrophy (SMA). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin).

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