What is centronuclear myopathy?

Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound.

Is centronuclear myopathy fatal?

X-linked myotubular myopathy was traditionally a fatal condition of infancy, with life expectancy of usually less than two years. There appears to be substantial variability in the clinical severity for different genetic abnormalities at that same MTM1 gene.

Is Myotubular myopathy fatal?

Centronuclear (CNM) and X-linked Myotubular Myopathies (XLMTM) are rare genetic disorders (also known as orphan diseases). These particular genetic disorders affect skeletal muscle tissue. The severity of the disease differs from case to case, ranging from slightly debilitating to fatal.

Is there a cure for congenital myopathy?

There are no known cures for congenital myopathies. However, the recent advances in gene therapy can provide treatment for congenital myopathies. The supportive treatments, including physical, occupational and speech therapies, nutritional support, and assisted breathing, may be helpful.

Is centronuclear myopathy progressive?

Autosomal dominant centronuclear myopathy (the dynamin 2 type) often has a very gradual onset and is slowly progressive. It may not cause a person to seek medical attention until young adulthood.

What are the signs and symptoms of central core disease?

The symptoms of CCD are variable, but usually involve hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.

How many people have centronuclear myopathy?

The incidence of all congenital myopathies (including central core disease, multi-minicore disease, nemaline myopathy and centronuclear myopathy) is estimated at around 0.06/1,000 live births, or one-tenth of all cases of neuromuscular disorders [3].

Is Myotubular myopathy curable?

The goal is to increase production of myotubularin protein allowing our muscles to contract and, in turn, giving patients the ability to breathe and swallow on their own. The treatment is not a cure for the disease, but a means to control disease progression and reduce symptoms.

What can Myotubular myopathy cause?

In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis ), and joint deformities (contractures) of the hips and knees.

What can be done for myopathy?

Certain types of myopathies can be treated with immune-suppressant agents and IVIG. Most myopathies require the use of supportive services, such as physical and occupational therapy, pulmonary medicine, cardiology, dietary management, and speech/swallowing therapists.

Can muscle myopathy be reversed?

While myopathy caused by statins can be mild and can be reversed when the medication is discontinued, it may present as rhabdomyolysis or severe muscle damage.

What is Minicore myopathy?

Minicore myopathy is a rare inherited muscle condition that causes muscle weakness and wasting. It gets its name from small ‘core’ structures that can be seen when the muscle cells are viewed under a microscope and ‘myopathy’ which means muscle disease.

When does centronuclear myopathy occur in a person?

Centronuclear myopathy (CNM) is an umbrella term for a group of rare genetic muscle disorders. These disorders are characterized by muscle weakness that can range from mild to profound. Symptoms are often present at birth in the severe forms, but may first develop at any point during life, although onset in adulthood is unusual.

How are centronuclear myopathies related to RyR1?

At least one male child with RYR1 -related CNM developed a severe form of the disorder and was initially diagnosed with X-linked myotubular myopathy before being identified as having a mutation in the RYR1 gene. Centronuclear myopathies are caused by a mutation in a specific gene. The autosomal forms are denoted by their associated gene.

How are centronuclear myopathies related to DNM2 mutations?

Centronuclear myopathies are caused by a mutation in a specific gene. The autosomal forms are denoted by their associated gene. DNM2 -related myopathy is caused by a mutation in the dynamin 2 ( DNM2) gene and is inherited as an autosomal dominant condition.

Which is autosomal dominant centronuclear myopathy ( AD-CNM )?

Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people.