Amyotrophic lateral sclerosis facts Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. Amyotrophic lateral sclerosis, or ALS, is sometimes called Lou Gehrig's disease. As many as 20,000 to 30,000 people in the United States have ALS, and an estimated 5,000 people in the United States are diag  Read More

Polymyalgia rheumatica is a rare inflammatory disease characterized by muscle pain (myalgia), stiffness, and additional generalized systemic symptoms such as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia rheumatica can be a relatively benign condition that is extremely responsive to treatment. In some rare cases, permanent muscle weakness, degeneration and loss (atrophy) of muscle mass, and disability  Read More

Arthritis is a common condition that causes pain, swelling, and stiffness in the joints. It's one of the most common reasons for disability in the United States, and it affects many million people worldwide. Unfortunately, there's no cure for arthritis. But there are some treatments that can help manage symptoms and keep them under control. Here are some of your options: Medications: There are several different types available to treat arthriti  Read More

There is no cure for juvenile rheumatoid arthritis, but there are medications that can help treat the symptoms. 1. The first step in treating juvenile rheumatoid arthritis is to control the inflammation that occurs in the joints. 2. Your doctor may prescribe a nonsteroidal anti-inflammatory drug (NSAID) like ibuprofen or naproxen or a corticosteroid like prednisone. These drugs are designed to reduce  Read More

Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformatio  Read More

"Camptomelic syndrome is a rare genetic disorder that affects the development of certain bones in the body. It is most commonly found in children, but it can also affect adults. Camptomelic syndrome is diagnosed through a physical exam, and it can be confirmed with X-rays and/or CT scans. Camptomelic syndrome is caused by a mutation in the FGFR2 gene. This gene controls how your body grows bones, especially those of the hands and feet. When a pe  Read More

Signs and symptoms can vary greatly. Movement and coordination problems associated with cerebral palsy may include: Variations in muscle tone, such as being either too stiff or too floppy Stiff muscles and exaggerated reflexes (spasticity) Stiff muscles with normal reflexes (rigidity) Lack of muscle coordination (ataxia) Tremors or involuntary movements Slow, writhing movements (  Read More

Early indications of mixed connective tissue disease can include: General feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud's disease). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fin  Read More

Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extrem  Read More

Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures  Read More

The symptoms and physical findings of mixed cryoglobulinemia can vary greatly from one individual to another. Many different organ symptoms can be potentially become involved. Some individuals will only exhibit one manifestation of the disorder; others will exhibit symptoms of multiple organ systems. Most affected individuals develop purplish discoloration of the skin due to bleeding underneath the skin from small blood vessels (purpur  Read More

Degenerative disc disease is a condition caused by the wearing down of the discs in your spine. The discs are cushions between each vertebrae that help absorb shock and keep bones separated, but as they get older, they become less effective at doing this.Sciatica is a painful condition caused by compression of the nerve root at the lower end of your spine. This can cause pain or tingling in one or both legs, which is often worse wh  Read More

The first signs and symptoms of CED are usually limb pain, a waddling gait, muscle weakness, and extreme tiredness. If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. Additional musculoskeletal features include scoliosis, joint contractures, knock knees, and flat feet. The individual may also present with abnormally long limbs  Read More

Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  Read More

Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  Read More

DMC syndrome is a rare genetic disorder that affects about 1 in 2,500 people. It's characterized by a combination of developmental, muscular and connective tissue disorders that generally appear in early childhood. 1. The condition can cause abnormalities in your body's tissues and organs, including the heart, muscles and bones. It can also affect your blood vessels and nerves. These health issues can make it diff  Read More

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that  Read More

Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  Read More

Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood.The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an im  Read More

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is usually apparent at birth (congenital myopathy). It belongs to a group of muscle conditions called the congenital myopathies that tend to affect people in a similar pattern. Major symptoms may include loss of muscle tone (hypotonia) and generalized muscle weakness. Delays in motor development are common and people with more marked muscle weakness also have abno  Read More

Granulocytopenia primary, also known as agranulocytosis, is an immunological disorder, in which granulocyte count in the blood reduces below the normal range. Granulocytes are a family of immune cells known as white blood cells (WBCs). Treatment 1. When a person is diagnosed with the disease, any suspected medications or offending agents must be stopped. 2. In immunocompromised persons, general care, s  Read More

A herniated disc is a condition in which the annulus fibrosus is damaged, enabling the nucleus pulposus (which is normally located within the center of the disc) to displace and protrude off the center. It compresses the nerve or spinal and causes spinal cord dysfunction. Treatment The treatment is either surgical or non-surgical. 1. Non-surgical treatment -Non-surgical treatment is the primary a  Read More

Jansen metaphyseal dysostosis is a rare genetic disorder that affects the development of the bones in children. The disorder causes abnormal bone growth, which can lead to fractures and deformities of the bones. 1. Jansen metaphyseal dysostosis is caused by a mutation of the CDKN1A gene. The gene provides instructions for making a protein called p16-INK4a, which plays an important role in cell growth and division.  Read More

There is no cure for Kenny Caffey Syndrome yet, but there are some promising treatments. 1. There is a new drug that can help control the symptoms of KCS. It's called M-22, and it works by blocking the action of serotonin receptors in the brain. This helps reduce the severity of some of the symptoms, including seizures and involuntary movement. 2. Another treatment option is deep brain stimulation (DB  Read More

Affected individuals begin to develop neurological symptoms between 20 to 50 years of age. These early symptoms include: · Weakness/cramps in arm and leg muscles (proximal > distal) · Face, mouth, and tongue muscle weakness · Difficulty with speaking and swallowing (dysphagia) · Twitching (Fasciculations) · Tremors and trembling in certain positions · Enlarged breasts (gynecomastia) ·  Read More

There is no cure for Kniest chondrodystrophy, but there are some medications that can help control symptoms. The most common treatment is a drug called prednisone, which can be used to treat inflammation and swelling associated with the disease. Doctors will also often prescribe pain relievers like ibuprofen or acetaminophen to help manage symptoms like joint pain and stiffness. Treatment options include surgery,  Read More

Legg-Calvé-Perthes Disease (LCPD) is one of a group of disorders known as the Osteochondroses. The Osteochondroses typically are characterized by degeneration (avascular necrosis) and subsequent regeneration of the growing end of a bone (epiphyses). In Legg-Calvé-Perthes Disease, the growing end (epiphysis) of the upper portion (capital) of the thigh bone (femur) is affected. Researchers believe that an unexplained interruption o  Read More

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that  Read More

Marfanoid hypermobility syndrome is a genetic condition that affects the connective tissue in the body. In many ways, it resembles the more common Marfan syndrome. However, while Marfan syndrome is a rare genetic disorder that can cause serious health problems and even death, marfanoid hypermobility syndrome is much less severe—it's estimated that fewer than 1% of people with Marfan syndrome actually have this condition.  Read More

Pain located in the neck is a common medical condition. Neck pain can come from a number of disorders and diseases and can involve any of the tissues in the neck. Examples of common conditions causing neck pain are degenerative disc disease, neck strain, neck injury such as in whiplash, a herniated disc, or a pinched nerve. Neck pain can come from common infections, such as virus infection of the throat, leading to lymph node (gland) swelling  Read More

Polymyalgia rheumatica and giant cell arteritis facts Polymyalgia rheumatica causes pain and stiffness in muscles and joints. Polymyalgia rheumatica is diagnosed by characteristic symptoms associated with abnormal blood testing for inflammation. Polymyalgia rheumatica is treated with low doses of cortisone medications. Giant cell arteritis is a result of inflammation of arteries. Giant cel  Read More

Symptoms of scapuloperoneal myopathy primarily include muscle weakness and wasting usually limited to muscles in the shoulder blade and girdle area and the legs below the knees. This disorder can begin in childhood or adulthood. The progression rate and severity may vary greatly, with some cases progressing more quickly than others. In most cases, the progression is slow. The shoulder muscles are affected first, in most cases. In some  Read More

Spinal muscular atrophy type 3 is an inherited progressive neurodegenerative disease. SMA is caused by alterations (mutations) in the genes that make proteins needed to support motor neuron function. The degree of genetic involvement determines what type of SMA you have as well as the severity of symptoms.1 Since SMA is a genetic condition, there are no specific lifestyle factors known to cause or prevent it.  Read More

Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.  Read More

Many people with mild hypophosphatemia don’t have symptoms. Symptoms may not appear until your phosphate levels drop very low. When symptoms do occur, they can include: muscle weakness fatigue bone pain bone fractures appetite loss irritability numbness confusion slowed growth and shorter than normal height in children tooth d  Read More