GENETIC DISORDERS Dr Ayesha Imtiaz Pathology

Genetic & developmental disorders Neuromuscular disorder Torticollis Kyphoscoliosis Erb”s palsy

Neuromuscular disorders Neuromuscular disorders include a wide-range of diseases affecting the peripheral nervous system, which consists of all the motor and sensory nerves that connect the brain and spinal cord to the rest of the body. Progressive muscle weakness is the predominant condition of these disorders. encompasses many different syndromes and diseases that either directly or indirectly impairs the function of the skeletal muscles, the muscles that move the limbs and trunk.

Cont.. can be through problems with the muscle structure itself (pathology) or problems found in the signal that is sent to the muscle, such as through a nerve

Neuromuscular disorders Amyotrophic lateral sclerosis Multiple sclerosis Myasthenia gravis Spinal muscular atrophy

ERB’S PALSY Erb's palsy is a form of brachial plexus palsy. It is named for one of the doctors who first described this condition, network of nerves near the neck that give rise to all the nerves of the arm. These nerves provide movement and feeling to the arm, hand, and fingers. Palsy means weakness, and brachial plexus birth palsy causes arm weakness and loss of motion. One or two of every 1,000 babies have this condition. It is often caused when an infant's neck is stretched to the side during a difficult delivery.

Erbs palsy

Cont.. Neurapraxia A stretch injury that "shocks," but does not tear the nerve is the most common type. This is called a neurapraxia. Normally, these injuries heal on their own, usually within 3 months. Neurapraxia can happen in adults, as well as infants. For example, when it happens to football players who are injured during play, it is called "burners and stingers."

SYMPTOMS Weakness in one arm Loss of feeling in the arm Partial or total paralysis of the arm TREATMENT  Nonsurgical  Surgical

KYPHOSCOLIOSIS Kyphoscoliosis is a disorder characterized by posterior curvature (kyphosis) and lateral curvature (scoliosis) of the spine. These processes alone and in combination decrease the volume and mobility of the lung and chest wall.

KYPHOSCOLIOSIS

Etiology Kyphoscoliosis is a common skeletal abnormality that affects 1% of the United States population and occurs predominantly in females. The prevalence of clinically significant deformity (i.e., an angle of greater than 10°) is 23 in 1000 individuals. The etiology of kyphoscoliosis is not clear in 80% of cases. A major known cause is childhood poliomyelitis. Congenital abnormalities with or without bone defects are uncommon.

Symptoms Exertional dyspnea is the outstanding respiratory symptom of kyphoscoliosis. The onset and severity of dyspnea correlate with the degree of the spinal angulation.

Osteogenesis imperfecta Genetic disorder of collagen Genetic disorder of collagen Bone disease in which bones are prone to fracture Bone disease in which bones are prone to fracture Sometimes called brittle bone disease Sometimes called brittle bone disease People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen Eight types of OI can be distinguished.

TORTICOLLIS Torticollis is a twisted neck in which the head is tipped to one side, while the chin is turned to the other.

Types Inherited -- due to changes in your genes Acquired -- develops as a result of damage to the nervous system, upper spine, or muscles If the condition occurs without a known cause, it is called idiopathic torticollis. Torticollis may develop in childhood or adulthood. Congenital torticollis (present at birth) may occur if the baby's head was in the wrong position while growing in the womb, or if the muscles or blood supply to the neck are injured.

Symptoms Limited range of motion of the head Headache Head tremor Neck pain Shoulder that is higher on one side of the body Stiffness of the neck muscles Swelling of the neck muscles (possibly present at birth)

Acquired torticollis (causes) Noncongenital muscular torticollis can result from scarring or disease of cervical vertebrae, adenitis, tonsillitis, rheumatism, enlarged cervical glands, retropharyngeal abscess, or cerebellar tumors. It may be spasmodic (clonic) or permanent (tonic). The latter type may be due to Pott's Disease (tuberculosis of the spine).

Acquired Torticolllis A self-limiting spontaneously occurring form of torticollis with one or more painful neck muscles is by far the most common ('stiff neck') and will pass spontaneously in 1–4 weeks. Usually the sternocleidomastoid muscle or the trapezius muscle is involved. Sometimes draughts, colds or unusual postures are implicated; however in many cases no clear cause is found. These episodes are commonly seen by physicians.

Acquired torticollis Tumors of the skull base (posterior fossa tumors) can compress the nerve supply to the neck and cause torticollis, and these problems must be treated surgically

Acquired torticollis Infections in the posterior pharynx can irritate the nerves supplying the neck muscles and cause torticollis, and these infections may be treated with antibiotics if they are not too severe, but could require surgical debridement in intractable cases.

Acquired torticollis Ear infections and surgical removal of the adenoids can cause an entity known as Grisel's syndrome, a subluxation of the upper cervical joints, mostly the atlantoaxial joint, due to inflammatory laxity of the ligaments caused by an infection.

THANX