Disability Research

Cerebral palsy: A group of disorders that affect the brain at some time before a child is one month old, resulting in a lack of normal control of movements. Because the areas of the brain that control movement are immature and not very effective early in life, until the child reaches an age at which these areas are functional, a lack of function may go unrecognized. 

Negative symptoms: Inability to do normal motor activities such as reach for a toy, pick up a raisin with the fingers, or walk.

Positive symptoms can consist of abnormal movements such as the involuntary flexion of the foot when trying to walk: resulting in toe walking, or the impediment of voluntary movements. These can result in unusual arm or leg postures. 

Common patterns:

Diplegia: Legs are more severely affected than the arms. About 50 percent of children affected with diplegia are able to walk.

Hemiplegia: The arm and leg on one side are affected and the other side is normal. The arm is more severely involved than the leg, and the prognosis for walking is good.

Quadriplegia: All four limbs are involved, with the least likelihood of being able to walk and most likely to have associated problems such as abnormal speech, chewing, drinking, and swallowing.

Treatment: 

Physical aids: Wheelchairs, walkers, and crutches. 

Physical therapy: helps interfere with involuntary and primitive reflex patterns that hinder voluntary movements. Therapy can also facilitate normal patterns of arm and leg use. 

Occupational therapy: Focuses on developing fine motor skills and improving the ability to dress, eat, write, and perform other daily activities. 

Orthopedic surgery: Can improve muscle balance, release contractures, and correct scoliosis. 

Clubfoot: A condition that involves both the foot and lower leg in which the foot turns inward and downward. Clubfoot is the most common congenital disorder (present at birth) of the legs. Often caused by a tightened Achilles tendon.

Symptoms: One or both feet may be affected. The foot turns inward and downward at birth and is difficult to place in the correct position. The calf muscle and foot may be slightly smaller than normal. 

Testing: Physical examination, foot x-ray, ultrasound during the first 6 months of pregnancy. 

Treatment: Having an Orthopedic specialist Move the foot into the correct position and use a cast to keep it in place. Some severe cases of clubfoot will need surgery if other treatments do not work, or if the problem returns. 

Hand-foot-genital syndrome: A rare condition caused by genetic mutations, that affects the development of the hands and feet, the urinary tract, and the reproductive system.

Symptoms:

• Abnormally short thumbs and first (big) toes, small fifth fingers that curve inward, and short feet.
• Fused or delayed hardening of the wrist and ankle bones.
•  Recurrent urinary tract infections and an inability to control the flow of urine (urinary incontinence) 
• . About half of males with this disorder have the urethra opening on the underside of the penis (hypospadias).

Treatment: As the disorder is so rare, treatment options are still being investigated. Working with a rare disease expert is recommended.

 Muscular dystrophy: A group of conditions in which skeletal muscles become progressively weaker. As individual muscle fibers become so weak that they die, they are replaced by fat and connective tissue, which are not capable of directed movement. As a result, the patient progressively loses control over the affected areas.

 Duchenne muscular dystrophy: The most common form of Muscular Dystrophy, which affects the muscles in the upper thigh and pelvis. The disease strikes in early childhood, usually between the ages of four and seven. It occurs overwhelmingly in boys, who carry the gene.

Symptoms:  Weakness in the hips and upper thighs; initially, experience difficulty in sitting up or standing. The disease progresses to loss of the ability to walk during early teens. As the disease progresses, portions of the brain become affected, and intelligence is reduced. Muscle fibers in the heart are also affected. Most individuals with Duchenne muscular dystrophy die by the age of twenty.

Diagnosis: Made through observation, typically from parents, followed by a physician. Family history and  observations are usually sufficient to establish a firm diagnosis. Occasionally, a physician may elect to order physiological or genetic tests to confirm the tentative diagnosis. 

Treatment: There is no specific treatment for any of the muscular dystrophies. Physical therapy is frequently ordered and used to prevent the remaining unaffected muscles from losing their tone and mass. In some stages of the disease, braces, appliances, and orthopedic surgery may be used. 

Spina Bifida:  A birth defect that results from a mistake early in the development of the spinal cord. Severity depends on the damage level to the spinal cord. Complications include the failure of vertebrae to protect the spinal cord, and improper fluid balances in the brain (hydrocephalus).

Causes: Birth defect.

Symptoms: Bulging spinal cord, hydrocephalus, paralysis in lower back and legs, bladder and bowel malfunction, loss of sensation, mental impairment.

Treatments: Surgery, catheterization, sometimes fetal surgery, drainage of fluid from Hydrocephalus, prosthetic devices, mental health therapy, and physical therapy.

Anatomy or system affected: Cells, muscles, musculoskeletal system, nerves, nervous system

Definition: A progressive neurodegenerative disease characterized by tremor, slow movement, and muscle rigidity and usually seen in those over the age of forty

Causes: Unclear; likely involves genetic and environmental factors

Symptoms: Tremors, impaired gait, muscle rigidity, impaired swallowing, difficulty with repetitive movement and manual dexterity, fatigue

Duration: Chronic and progressive

Treatments: Alleviation of symptoms through medications, surgery, physical therapy