Levator syndrome consists of pain, pressure, and discomfort in the region of the rectum, sacrum, and coccyx, which appears to be aggravated by sitting. This is also known as coccygodynia, levator ani syndrome, levator ani spasm syndrome, proctalgia fugax, and proctodynia.
A very rare inherited syndrome characterized mainly by mental retardation, ophthalmoplegia and a fissured tongue
A very rare inherited disorder mainly involving progressive muscle weakness and wasting, abnormal limb movement, progressive cognitive loss and red blood cell abnormalities.
levo-Transposition of the great arteries (l-Transposition of the great arteries, levo-TGA, or l-TGA), also commonly referred to as congenitally corrected transposition of the great arteries (CC-TGA), is an acyanotic congenital heart defect (CHD) in which the primary arteries (the aorta and the pulmonary artery) are transposed, with the aorta anterior and to the left of the pulmonary artery; and the morphological left and right ventricles are also transposed.
Lichen Planopilaris (LPP) is an uncommon, chronic inflammatory scalp condition that causes permanent, scarring hair loss. It is classified as a primary cicatricial (scarring) alopecia and is considered a follicular variant of lichen planus, where the body’s immune system mistakenly attacks hair follicles.
A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
A nerve disorder which affects muscles. It causes prolonged muscle spasms (contractions) which results in repeated twisting motions or abnormal limb postures.
A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.
Adams Oliver syndrome is a rare disorder identified in 1945 by Dr F H Adams and Dr C P Oliver. The syndrome is characterised by congenital scalp and skull defects. These defects can range from mild, with some skin and hair defect, through to severe when there may be defects of the underlying bone.
A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones
Limbbody wall complex (LBWC) is a rare,complicated, polymalformative fetal malformation syndrome with the essential features of : a) exencephaly/ encephalocele with facial clefts, b) thoraco-and/or abdominoschisis and c) limb defect . Generally, the diagnosis is based on two of three of the above features. Two phenotypes have been described, the “placento- cranial” and “placento-abdominal” adhesion phenotypes.
Limb-girdle muscular dystrophy (LGMD) is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy. Limb-girdle muscular dystrophy encompasses a large number of rare disorders.
A rare inherited condition characterized mainly by progressive wasting and weakness of muscles in the shoulder and pelvic girdle (around the top of the arms and legs). Heart and breathing complications may also occur in some cases
LGMD2A may be the most common autosomal recessive LGMD, accounting for about 30% of all cases in the Brazilian and other populations. In some areas, including the Basque region of Spain (where a founder mutation is identified), LGMD2A accounts for almost 80% of all cases of LGMD.
sarcoglycanopathies tend to cause a severe Duchenne-like phenotype, but mild Becker-like phenotypes have been described. Overall, these diseases account for about 20-25% of all LGMDs, but they are overrepresented among severe cases. LGMD2D (alpha-sarcoglycan [adhalin]) accounts for 40% of the sarcoglycanopathies, LGMD2C and 2E (gamma-sarcoglycan and beta-sarcoglycan) each account for about 23% and LGMD2F (delta-sarcoglycan) accounts for 14% of cases in the Brazilian population
* LGMD2H has been observed only in the Hutterite people of Manitoba . * This disease is allelic with sarcotubular myopathy (see Congenital Myopathies). * Most patients have a mild phenotype, with limb-girdle weakness and a waddling gait at presentation. The proximal arm muscles and the distal leg muscles are involved late. * The age of onset is 8-27 years; some patients are asymptomatic in their third decade. * Back pain and fatigue are common symptoms. * Progression is slow, with continued ambulation until around 50 years of age or later.
LGMD2I/R9 is a rare, genetic disorder causing progressive weakness and wasting of the arm and leg muscles, leading to a gradual loss of functional independence. It is caused by mutations in the FKRP gene, which impairs the glycosylation of alpha-dystroglycan, a protein crucial for muscle cell stability. Symptoms typically emerge in childhood or adulthood, and the condition can also affect heart and lung function, with management focused on symptom control and physical therapy.
All limb-girdle muscular dystrophies (LGMD) show a similar distribution of muscle weakness, affecting both upper arms and legs. Frequently, the first reported symptoms are difficulty climbing stairs, standing from a squatting position, or raising arms above the head.
The earliest descriptions of limb-girdle weakness are ascribed to Leyden and Möbius in 1876 and 1879, respectively. They described adult patients with a pelvic and femoral distribution of weakness and atrophy with a benign course. In 1884, Erb characterized a juvenile form of proximal muscle weakness. Erb's patient had only shoulder-girdle weakness and atrophy, with sparing of other muscles of the body and a benign disease course compared with that described by Duchenne in the 1860s. Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established.
Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade. More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2C is available below.
An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade. More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2D is available below.
An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade. More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2E is available below.
Limb-mammary syndrome (medical condition): A rare syndrome characterized by abnormalities of the hand and/or foot as well as absent or underdeveloped mammary glands and nipples. The severity of the deformity is variable. Tooth, nail and sweat gland abnormalities may also be present. See also
Limbal stem cell deficiency (LSCD) is a condition where damage to the stem cells at the edge of the cornea (limbus) causes failure to repair the corneal surface. This leads to conjunctival tissue growing over the cornea (conjunctivalization), resulting in chronic pain, vision loss, inflammation, and potential blindness.
The brain could be regarded as being in three parts. The brain stem is the most primitive part and sits above the spinal cord at the base of the rest of the brain. The brain stem plays a vital role in basic attention, arousal, and consciousness. All information to and from our body passes through the brain stem on the way to or from the brain. The brain stem is responsible for many of the functions that give us life such as breathing, heart function, sleep wake cycle, temperature control. Wrapped around this basic brain is the “limbic brain” or intermediate brain. It includes the hippocampus, thalamus, hypothalamus and amygdala which are involved in memory and much of the behaviour related to sex, hormones, food, fight or flight responses, the perception of pleasure and competition with others. The limbic brain is the seat of higher emotions including the protection of the young and feelings such as love, sadness and jealousy.
Systemic sclerosis (SSc) is a systemic connective tissue disease. Characteristics of SSc include essential vasomotor disturbances; fibrosis; subsequent atrophy of the skin, subcutaneous tissue, muscles, and internal organs (eg, alimentary tract, lungs, heart, kidney, CNS); and immunologic disturbances accompany these findings.
Lindsay-Burn syndrome: A very rare syndrome characterized mainly by mental retardation, psychosis and enlarged testes. More detailed information about the symptoms, causes, and treatments of Lindsay-Burn syndrome is available below.
Lindsay-Burn syndrome: A very rare syndrome characterized mainly by mental retardation, psychosis and enlarged testes. Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Lindsay-Burn syndrome as a "rare disease".