Which disease phenotypes do mutations in DNM2 contribute to?

Indeed, it has recently been genetically determined that mutations in DNM2 lead to centronuclear myopathy (CNM), a congenital myopathy, as well as two forms of Charcot-Marie-Tooth (CMT), an auto-somal dominant peripheral neuropathy.

What is central nuclear myopathy?

Centronuclear myopathies are a group of muscle diseases that are considered part of a larger family of muscle diseases known as congenital myopathies, a group of genetic muscle disorder that are evident at or around the time of birth.

What is the cause of Myotubular myopathy?

What causes myotubular myopathy? This disease is caused by defects or deficiencies of myotubularin, a protein thought to promote normal muscle development. It is inherited in an X-linked recessive pattern, meaning it primarily affects boys, who inherit the disease through their mothers.

Is Myotubular myopathy a rare disease?

X-linked myotubular myopathy (XLMTM) is a rare genetic neuromuscular disorder that is characterized by muscle weakness that is most typically severe but can range from mild to profound. Symptoms are often present at birth, though may develop later in infancy or early childhood.

Is there a cure for Myotubular myopathy?

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.

Is Myotubular myopathy fatal?

Myotubular myopathy is a rare genetic disease affecting the skeletal muscles – only found in boys – and is usually fatal in the first years of life.

Is Myotubular myopathy progressive?

Muscle weakness and poor muscle development can also cause delays in the attainment of motor milestones. Most affected individuals are unable to walk (non-ambulatory). Muscle weakness associated with XLMTM is not believed to be progressive, but this has not been definitely confirmed.

What is the most common myopathy?

The most common inherited myopathies are muscular dystrophies and these are typically more common in men and people DMAB.

• Duchenne’s and Becker’s muscular dystrophies are the most common, with 7 per 100,000 people worldwide.
• Mitochondrial disorders affect 1 in 5,000 people, and most affect skeletal muscle.

What are the signs and symptoms of myopathy?

The common symptoms of myopathy are muscle weakness, impaired function in activities of daily life, and, rarely, muscle pain and tenderness. Significant muscle pain and tenderness without weakness should prompt consideration of other causes.