Diseases

Limb-body wall complex

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

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.

Limb-girdle muscular dystrophy autosomal dominant

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

Limb-girdle muscular dystrophy type 2A

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.

Limb-girdle muscular dystrophy type 2F

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

Limb-girdle muscular dystrophy type 2H

* 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.

Limb-Girdle Muscular Dystrophy Type 2I/R9

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. 

Limb-girdle muscular dystrophy- type 1B

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.

Limb-girdle muscular dystrophy- type 2B

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

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.

Limb-girdle muscular dystrophy- type 2D

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.

Limb-girdle muscular dystrophy- type 2E

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

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

Limbic encephalitis

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.

Limited systemic sclerosis

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

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.

Lindstrom syndrome

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".

Linear hamartoma syndrome

Cowden's disease An AD condition characterized by ↑ susceptibility to ectodermal, mesodermal, endodermal mucocutaneous hamartomas, as well as malignancies–eg, papillary or follicular thyroid CA, breast CA, osteosarcoma. Cf Chromosomal breakage syndromes, Li-Fraumani syndrome.

Linear porokeratosis

Porokeratosis is a clonal disorder of keratinization characterized by 1 or more atrophic patches surrounded by a clinically and histologically distinctive ridgelike border called the cornoid lamella. Five clinical variants of porokeratosis are recognized: classic porokeratosis of Mibelli (PM), disseminated superficial actinic porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata (PPPD), linear porokeratosis, and punctate porokeratosis. Several other variants have been described, including hyperkeratosis types, a pruritic papular variant, and an unusual verrucous variant that is localized to the buttocks and mimics psoriasis. Occasionally, a patient may develop more than one type of porokeratosis

Linear Scleroderma

A rare autoimmune connective tissue disease characterized by the development of bands of hard skin across face or on a single arm or leg. Muscle or bone may also be involved but it rarely affects growth or causes deformity. The condition is a rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue.

Lip and oral cavity cancer

Cancer of the lip and oral cavity is a disease in which cancerous (malignant) cells are found in the tissues of the lip or mouth. The oral cavity includes the: front two-thirds of the tongue upper and lower gums (the gingiva) lining of the inside of the cheeks and lips (the buccal mucosa) bottom (floor) of the mouth under the tongue bony top of the mouth (the hard palate) small area behind the wisdom teeth (the retromolar trigone)

Lipid storage myopathy

Metabolic myopathies refer to a group of hereditary muscle disorders caused by enzymatic defects due to defective gene insult. Metabolic myopathies are heterogeneous conditions that have common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary inborn errors of metabolism and are associated with known or postulated enzymatic defects that affect the ability of muscle fibers to maintain adequate adenosine triphosphate (ATP) concentrations. Traditionally, these diseases are grouped into abnormalities of glycogen, lipid, purine, or mitochondrial biochemistry.

Lipidosis with triglycerid storage disease

Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems. More detailed information about the symptoms, causes, and treatments of Lipidosis with triglyceride storage disease is available below.

Lipoamide dehydrogenase deficiency

Lipoamide dehydrogenase deficiency: A very rare enzyme deficiency (dihydrolipoamide dehydrogenase) which can cause lactic acidosis. The age of onset and symptoms are variable. More detailed information about the symptoms, causes, and treatments of Lipoamide dehydrogenase deficiency is available below.

Lipoatrophy with diabetes- hepatic steatosis- cardiomyopathy- and leukomelanodermic papules

Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules: A rare inherited disorder characterized by loss of fat under the skin, diabetes, heart muscle disease, fatty liver. More detailed information about the symptoms, causes, and treatments of Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules is available below.

Lipodermatosclerosis

Lipodermatosclerosis (medical condition): A rare condition that affects the skin above the ankles. It tends to occur in people with chronic vein problems which affects the blood flow the this area of skin. The skin becomes smooth, brown, tight and painful.