Azorean neurologic disease is one of the 40 types of spinocerebellar ataxia (SCA). It is the third type and is called type 3 SCA. Mutations in the gene that codes for the protein ataxin-3 cause the disease. Particularly, the gradual expansion of the CAG repeats is the cause. Normal ataxin-3 is involved in protein homeostasis and cytoskeleton regulation in the central nervous system. The abnormal ataxin protein leads to the los  Read More

Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

Craniofrontonasal dysplasia is a very rare inherited disorder characterized by abnormalities of the head and face (craniofacial area), hands and feet, and certain skeletal bones. Major symptoms of this disorder may include widely spaced eyes (ocular hypertelorism), a groove (cleft) on the tip of the nose, an unusually wide mouth, malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia), such a  Read More

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is apparent at birth (congenital). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation); characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance; malformations of the hands and arms (upper limbs); and mild to severe mental  Read More

Dupuytren's syndrome is a hand deformity that usually develops over the years. The condition affects a layer of tissue that lies under the skin of your palm. Treatment involves removing or breaking apart the cords that are pulling your fingers toward your palm. This can be done in several ways. The choice of procedure depends on the severity of your symptoms and other health problems you may have. 1. Needlin  Read More

Dutch-kennedy syndrome is a rare inherited disorder characterized by short muscles and tendons that result in limited mobility of the hands, legs, and mouth. The most serious complication of this condition is the inability to completely open the mouth (trismus), which causes difficulty with chewing. Short muscles and tendons in the fingers cause the fingers to bend or curve (camptodactyly) when the hand is bent back at the wri  Read More

Muscle weakness in the arm or shoulder known as erb-duchenne palsy can be brought on by an injury received either during birth or later in life. It most frequently affects newborns whose shoulders were damaged after birth. While some cases cure on their own. Symptoms 1. Elbow, arm, and shoulder are all impacted by Erb's palsy. Your hand muscles are generally unaffected, although your hands could feel  Read More

At birth, infants with galb deficiency appear healthy, but by 8 to 15 months, they stop growing and start losing their learned skills (developmental regression). Affected people experience seizures and blindness as the illness worsens, and gradually they lose consciousness of their surroundings and become slow to react. Most people who have this type of illness do not live into early childhood. Children with the c  Read More

A series of exceedingly rare genetic abnormalities known as growth hormone receptor deficiency prevents the body from using the growth hormone it produces. Growth hormone receptor deficiency can result from mutations in the growth hormone receptor (GHR) gene or in genes involved in the cell's action pathway after the growth hormone binds to its receptor. These mutations prevent the production of insulin-like growth factor (IG  Read More

Parkinson's disease is a progressive neurological disease that primarily affects the posture and movements of body parts. The signs and symptoms of the condition are tremors, bradykinesia, rigid muscles, impaired posture and balance, loss of automatic movements, and difficulty in writing and speaking.Progressive supranuclear palsy is a rare neurological condition that affects voluntary functions such as balance, gait, vision, speech, cog  Read More

Sudeck's atrophy is also called Complex regional pain syndrome (CRPS) which is a type of persistent pain that typically affects one's arm or leg. CRPS usually arises as a result of an injury, surgery, stroke, or heart attack. The pain is excessive in comparison to the intensity of the initial damage. The specific causes of CRPS are unknown. It is assumed to be caused by a difference or injury to the peripheral and central nerv  Read More

The nerve disorder of upper brachial plexus palsy, erb-duchenne causes weakness or loss of muscle function in the shoulder and arm. Five nerves that run from the spine to the arm and hand are together known as the brachial plexus. Your shoulder, arms, and hands can feel and move thanks to these nerves. Upper brachial plexus palsy, erb-duchenne is the medical term for when these brachial plexus nerves are damaged o  Read More