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

Simpson-Golabi-Behmel Syndrome Type 1 Many different parts of the body can be affected when a person has SGBS. Not every person with SGBS has the same symptoms, and none have all of these symptoms. Overall General muscle weakness and low muscle tone (hypotonia) in 61% of people Large size (macrosomia) Head Abnormal shape of the skull due to early bone fusion (craniosynosto  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

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

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

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

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

Kenny disease is a rare genetic disorder that causes skeletal abnormalities, such as joint stiffness, joint contractures, and muscle weakness. It also causes breathing problems, which can be life-threatening. The symptoms of Kenny-Caffey syndrome vary from person to person. Some people develop symptoms by the time they are toddlers or preschoolers; others have few symptoms until adulthood. People with  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

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