Users' questions

What is hereditary myopathy?

What is hereditary myopathy?

Hereditary myopathy with early respiratory failure (HMERF) is an inherited disease that affects muscles used for movement (skeletal muscles) and muscles that are needed for breathing (respiratory muscles). The major signs and symptoms of HMERF usually appear in adulthood, often in the mid-thirties.

Are myopathies inherited?

Inherited myopathies are caused by mutations, or changes, in genes — the blueprints for making proteins that are necessary for our bodies to function correctly.

Is congenital myopathy hereditary?

Congenital myopathy (CM) is an extremely rare, inherited disease that affects the muscles (myopathy) and is characterized by the lack of muscle tone or floppiness at birth. There are several different subtypes of congenital myopathy and many are caused by changes (mutations) in specific genes.

What are the symptoms of myopathy?

The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps).

What are the different types of myopathy treatment?

Because different types of myopathies are caused by many different pathways, there is no single treatment for myopathy. Treatments range from treatment of the symptoms to very specific cause-targeting treatments. Drug therapy, physical therapy, bracing for support, surgery, and massage are all current treatments for a variety of myopathies.

What are the types of hereditary diseases?

Acid Maltase Deficiency

  • Albinism
  • Angelman Syndrome
  • Canavan Disease
  • Charcot-Marie-Tooth Disease
  • Cri du Chat Syndrome
  • What is X-linked myotubular myopathy?

    Summary Summary. X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles.

    Is dermatomyositis and polymyositis hereditary?

    Dermatomyositis and Polymyositis are not considered hereditary disorders. Cases of Dermatomyositis and Polymyositis in the same family are very sporadic and are considered quite rare.