What is Bethlem dystrophy?

Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by slowly progressive muscle weakness and joint stiffness ( contractures ). It most often affects the fingers, wrists, elbows, and ankles.

How did myopathy get its name?

Myopathy means muscle disease (Greek : myo- muscle + patheia -pathy : suffering).

How common is Bethlem myopathy?

Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals.

What is Myopathic?

Myopathy is a general term referring to any disease that affects the muscles that control voluntary movement in the body. Patients experience muscle weakness due to a dysfunction of the muscle fibers. Some myopathies are genetic and can be passed from parent to child.

Is Bethlem myopathy a form of muscular dystrophy?

Bethlem myopathy, named after the Dutch doctor who first described it in 1976, is a rare and progressive form of muscular dystrophy. The condition mainly affects skeletal muscles and, to an extent, connective tissues.

What is Ullrich muscular dystrophy?

Ullrich congenital muscular dystrophy (UCMD) is a rare hereditary muscle condition that manifests at birth or a few months after birth. It belongs to a group of disorders called collagen type 6-related myopathies and characterized by abnormalities in collagen type 6, a major protein that supports skeletal muscles.

How serious is myopathy?

The prognosis for individuals with a myopathy varies. Some individuals have a normal life span and little or no disability. For others, however, the disorder may be progressive, severely disabling, life-threatening, or fatal.

What are the most common types of myopathy?

The most common myopathies seen in the Neuromuscular Center are inflammatory myopathies, muscular dystrophies, metabolic myopathies, myopathies associated with systemic disorders, and myopathies due to certain medications.

Who affects myopathy?

The inflammatory myopathies are rare and can affect both adults and children. Dermatomyositis is the most common chronic form in children. Polymyositis and dermatomyositis are more common in females while inclusion body myositis affects more men. Inclusion body myositis usually affects individuals over age 50.

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 Ullrich muscular dystrophy rare?

At Muscular Dystrophy UK, we bring together people living with one of 60 different rare and very rare muscle-wasting conditions. Most of these affect around one in every 1,000 people in the UK. I have a rare, degenerative condition called Ullrich congenital muscular dystrophy (UCMD).

What is the prognosis for myopathy?

What is the prevalence of Bethlem myopathy in the UK?

A 2009 study concerning the prevalence of genetic muscle disease in Northern England estimated the prevalence of Bethlem myopathy to be at 0.77:100,000. Together with the UCMD it is believed to be underdiagnosed. Both conditions have been described in individuals from a variety of ethnic backgrounds.

Is there a difference between UCDM and Bethlem myopathy?

Phenotypes of overlap between Ullrich congenital muscular dystrophy (UCMD) and Bethlem can be assumed. In the differential diagnosis of UCDM, even in patients without finger contractures, Bethlem myopathy could be considered. Currently there is no cure for the disease.

What kind of muscular dystrophy is Bethlem myopathy?

Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. The onset of this disease can begin even before birth but is more commonly in childhood or later into adult life.

Can a person with Bethlem myopathy use a walker?

People with Bethlem myopathy have symptoms that affect them for their whole lives, including progressive muscle weakness. About 66% of people with this disease require a walker, cane, or wheelchair after the age of 50 years. In some cases, people with Bethlem myopathy may require respiratory therapy, especially at night, to help them breathe.