Diseases

Muscular dystrophy limb girdle type 2A- Erb type

As the name indicates, this form mainly involves the upper extremities. It appears in some cases to have an autosomal recessive inheritance pattern. This disorder starts later in life (second to the fifth decades), and the disease is often so benign that years may elapse before it is diagnosed. Weakness is generally asymmetric and may spare the deltoid, supraspinatus, and infraspinatus muscles. Not until very late in life may the lower extremities show signs of involvement. The progression of the disease is very slow, and patients have a normal life expectancy. The disability experienced by patients is fairly minimal, although frozen shoulder syndrome may significantly alter function if it is bilateral. Intellectual deterioration and cardiac involvement are rare.

Muscular dystrophy- congenital- megaconial type

Congenital muscular dystrophy (CMD) is the term used to describe muscular dystrophy that is present at birth. CMD describes a number of autosomal recessive diseases of muscle weakness and possible joint deformities, present at birth and slowly progressing. Life expectancies for affected individuals vary, although some forms of CMD do not affect life span at all. All such known dystrophies are genetically recessive and result from mutations in a variety of different genes, including those encoding the laminin-α2 chain, fukutin-related protein, LARGE and fukutin, amongst others. Currently there is no cure. Physical and occupational therapy, surgery, wheelchairs and other assistive technology may be helpful Several authors of review articles have proposed classifications for the CMDs. In 2004, Muntoni and Voit suggested the following scheme: * Extracellular matrix protein defects o Laminin-alpha2–deficient CMD (MDC1A) o Ullrich CMD (UCMDs 1,2, and 3) * Integrin-alpha7 deficiency (ITGA7) * Glycosyltransferases (abnormal O-glycosylation [O-linked mannose pathway] of alpha-dystroglycan) o Walker-Warburg syndrome o MEB disease o Fukuyama CMD (FCMD) o CMD plus secondary laminin deficiency 1 (MDC1B) o CMD plus secondary laminin deficiency 2 (mutation in fukitin-related protein, MDC1C) o CMD with mental retardation and pachygyria (mutation in LARGE, MDC1D) * Proteins of the endoplasmic reticulum - Rigid-spine syndrome (RSMD1)

Muscular dystrophy- Duchenne and Becker type

An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.

Muscular fibrosis multifocal obstructed vessels

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Muscular fibrosis, multifocal - obstructed vessels as a "rare disease". Source - Orphanet

Myalgia eosinophilia associated with tryptophan

n October 1989, the health department in New Mexico was notified of 3 patients with an unexplained acute illness characterized by intense myalgia and peripheral blood eosinophilia. These 3 patients had ingested preparations containing L-tryptophan (LT). Within weeks, a nationwide outbreak of this disease occurred. The disease was termed eosinophilia-myalgia syndrome (EMS). In November 1989, for the purpose of nationwide surveillance, the US Centers for Disease Control and Prevention (CDC) defined this syndrome according to 3 criteria. These criteria are (1) a blood eosinophil count greater than 1000 cells/µL, (2) incapacitating myalgia, and (3) no evidence of infection (eg, trichinosis) or neoplastic conditions that would account for these findings. According to the CDC definition, consumption of L-tryptophan was not required for the diagnosis of EMS. Shortly thereafter, 2 case-control studies initiated by the health departments in New Mexico and Minnesota confirmed a strong association between the use of a specific brand of L-tryptophan and development of EMS. Analysis of implicated lots of LT identified many contaminants. The best-characterized of these is 1,1-ethylidenebis (L-tryptophan) (EBT), a tryptophan dimer. With the recall of L-tryptophan from the market in November 1989, a precipitous fall was observed in the incidence of EMS. However, contaminated L-tryptophan may not be the only cause of EMS. According to one estimate, 14% of EMS cases were not related to LT. Non–LT-related cases were more likely to be associated with symptoms of peripheral edema, rash, sclerodermalike skin change, alopecia, neuropathy and lower mean eosinophil count, fewer pulmonary symptoms, and a better prognosis compared with the LT cases. A review of toxic oil syndrome (TOS) cases that affected many thousands of Spaniards in the early 1980s and were associated with adulterated rapeseed oil reveals that TOS shares many clinical and histopathological features with EMS.

Myalgic encephalomyelitis

Due to the life style that we live today we might very often feel tired. The tiredness is prolonged in some cases and this indicates that the person is suffering from ME. It disorder is also known as chronic fatigue syndrome. Though fatigue and tiredness is experienced by everybody in this case the intensity and the duration is more. They are also accompanied with various other symptoms. This discomfort is also referred as myalgic encephalomyelitis. Many suggest that this disorder is due to the presence of some viral infection along with stress but there is no evidence that it is a contagious disease.

Myasthenia gravis

Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling.

Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest.

Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications.

People can develop myasthenia gravis at any age. For reasons that are unknown, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.

Myasthenia gravis

Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction caused by antibodies that attack components of the postsynaptic membrane, impair neuromuscular transmission, and lead to weakness and fatigue of skeletal (voluntary) muscles. This can be generalised or localised to certain muscle groups, and involvement of the bulbar and respiratory muscles can be life threatening.

The exact cause of myasthenia gravis is unknown. In some cases, it is linked to tumours of the thymus.

Myasthenia gravis can affect people at any age. It is most common in young women and older men. Current estimates place the prevalence at a high value of about 20 per 100,000.

Myasthenia gravis can affect people at any age. It is most common in young women and older men. Current estimates place the prevalence at a high value of about 20 per 100,000.

Myasthenia gravis can be classified according to the type, age of onset, antibody specificity and thymus histology.

1. course type:

  • ocular (in approximately 15-20% of MG patients)
  • oropharyngeal or generalized

 2. age of onset:

  • start before puberty
  • early onset before the age of 50 years
  • late onset after the age of 50 years

 3. antibody specificity:

  • anti-AChR
  • anti-muscle-specific receptor tyrosine kinase (MuSK)
  • anti-low-density lipoprotein receptor-related protein 4 (LRP4)
  • seronegative MG

 4. pathology of the thymus

  • normal/atrophic thymus pathology
  • thymitis
  • paraneoplastic occurrence associated with thymoma

Myasthenic syndrome- congenital- slow-channel

A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells

Mycetoma

Mycetoma (also known as astinomycotic mycetoma or maduromycosis), is a slow-growing bacterial or fungal infection focused in one area of the body, usually the foot. For this reason-and because the first medical reports were from doctors in Madura, India-an alternate name for the disease is Madura foot. The infection is characterized by an abnormal tissue mass beneath the skin, formation of cavities within the mass, and a fluid discharge. As the infection progresses, it affects the muscles and bones; at this advanced stage, disability may result.

Mycobacterium Abscessus Complex Lung Disease

(M. abscessus) complex is a group of rapidly growing, multi-drug resistant nontuberculous mycobacteria (NTM) commonly found in water, soil, and dust. It is a leading cause of severe, chronic, and treatment-refractory pulmonary disease, particularly in individuals with underlying structural lung diseases like cystic fibrosis or bronchiectasis. Because of its extreme intrinsic resistance to most antibiotics, M. abscessus is considered one of the most challenging infectious diseases to treat, with high rates of recurrence and poor clinical outcomes.

Mycobacterium Fortuitum

An infectious disease caused by Mycobacterium fortuitum which can be found in soil, dust and water. It usually causes infection of the skin and surrounding area usually after some sort of skin trauma such as an injury or surgery.

Mycobacterium tuberculosis- susceptibility to infection

Mycobacterium tuberculosis (MTB) is a pathogenic bacterial species in the genus Mycobacterium and the causative agent of most cases of tuberculosis.[1] First discovered in 1882 by Robert Koch, M. tuberculosis has an unusual, waxy coating on the cell surface (primarily mycolic acid), which makes the cells impervious to Gram staining; acid-fast techniques are used instead. The physiology of M. tuberculosis is highly aerobic and requires high levels of oxygen. Primarily a pathogen of the mammalian respiratory system, MTB infects the lungs, causing pneumonia.[1] The M. tuberculosis genome was sequenced in 1998

Mycoplasmal pneumonia

Mycoplasma pneumonia is an infection of the lungs caused by Mycoplasma pneumoniae (M. pneumoniae).

Mycosis Fungoides

Mycosis fungoides (pronounced “my-KOH-sis fun-GOY-deez”) is a blood cancer that happens when white blood cells called T cells transform into malignant (cancer) cells. T cells are a kind of lymphocyte. Lymphocytes fight harmful pathogens in your body, like viruses and bacteria. With mycosis fungoides, T cells transform into cancer cells that affect your skin.

Mycosis fungoides is a type of cutaneous T-cell lymphoma (CTCL). CTCL is a group of rare blood cancers that cause changes in your skin, like itchiness, rashes, plaques or tumors.

Although mycosis fungoides affects your skin, it’s not a form of skin cancer because your T cells — not skin cells — become cancerous.

Mycosis fungoides- familial

Mycosis fungoides is a disease in which T-cell lymphocytes (a type of white blood cell) become malignant (cancerous) and affect the skin. This condition is one of the most common types of T-cell lymphoma. Mycosis fungoides is characterized by a scaly, red rash that develops on the skin, particularly on areas that are not usually exposed to the sun. The rash may last for months or years without causing any symptoms. Over time, a thin, reddened, eczema-like rash may develop, followed by thickened, red patches of skin. Finally, tumors form which may develop into ulcers and become infected. Mycosis fungoides is difficult to cure. Treatment is usually palliative, with the intention of relieving symptoms and improving the quality of  life.

Myelin oligodendrocyte glycoprotein antibody-associated disease

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare, inflammatory autoimmune disorder of the central nervous system (CNS) where antibodies attack the myelin sheath protecting nerve fibers in the brain, spinal cord, and optic nerves. It causes distinct episodes of demyelination—often presenting as optic neuritis, transverse myelitis, or acute disseminated encephalomyelitis (ADEM)—and is clinically distinct from multiple sclerosis or AQP4-IgG+ NMOSD.

Myelinopathies

Disorders where the protective myelin sheath around nerves is destroyed which affects the transmission of nerve signals. The severity of symptoms is determined by the degree of myelin destruction and the nerves affected. Multiple sclerosis is an example of a myelin sheath disease.

Myelitis

Myelitis is an inflammation of the medulla oblongata of the brain. It is a disease of the spinal cord in which there is demyelination. A disorder of the lower spinal cord in adult males resulting in progressive paraplegia. The onset of the disorder is typically sudden. Acute transverse myelitis, which affects the entire thickness of the spinal cord, produces both motor and sensory dysfunctions.

Myelocerebellar disorder

A rare genetic disorder characterized by cerebellar ataxia (nervous system disorder that causes unsteadiness and incoordination) and pancytopenia (shortage of all types of blood cells).