Myotonic dystrophyMyotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In men, there may be early balding and an inability to father children. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. Myotonic dystrophy is caused by a genetic mutation in one of two genes.
Retinal pigment epitheliumThe pigmented layer of retina or retinal pigment epithelium (RPE) is the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells. The RPE was known in the 18th and 19th centuries as the pigmentum nigrum, referring to the observation that the RPE is dark (black in many animals, brown in humans); and as the tapetum nigrum, referring to the observation that in animals with a tapetum lucidum, in the region of the tapetum lucidum the RPE is not pigmented.
NystagmusNystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain.
FibulaThe fibula (: fibulae or fibulas) or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. Its upper extremity is small, placed toward the back of the head of the tibia, below the knee joint and excluded from the formation of this joint. Its lower extremity inclines a little forward, so as to be on a plane anterior to that of the upper end; it projects below the tibia and forms the lateral part of the ankle joint.
ChoroideremiaChoroideremia (kɒˌrɔɪdᵻˈriːmiə; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.
Ulnar styloid processThe styloid process of the ulna is a bony prominence found at distal end of the ulna in the forearm. The styloid process of the ulna projects from the medial and back part of the ulna. It descends a little lower than the head. The head is separated from the styloid process by a depression for the attachment of the apex of the triangular articular disk, and behind, by a shallow groove for the tendon of the extensor carpi ulnaris muscle. The styloid process of the ulnar varies in length between 2 mm and 6 mm.
