Limb-girdle muscular dystrophy

The term limb- ( engl. limb - girdle muscular dystrophy, LGMD ) is a group of hereditary muscle diseases ( myopathies ), whose common feature is paralysis of the muscles of the shoulder and pelvic girdle. Shoulder and pelvic girdles are called in medicine together as limb girdle. In addition to muscle paralysis the Gliedergürteldystrophien meet the criteria of muscular dystrophy. A muscular dystrophy is characterized by remodeling of muscle tissue. The diseases in this group are genetically and clinically heterogeneous. They are caused by different genetic mutations and the same gene mutations can cause a highly variable clinical picture. The onset of the disease ranges from small childhood to adulthood in the high and there are both mild and severe forms possible. Gliedergürteldystrophien are rare diseases. Estimates of disease frequency (prevalence ) of all Gliedergürteldystrophien ranging from 1:14500 to 1:123000.

Causes

The Gliedergürteldystrophien are caused by genetic defects on different chromosomes. These lead to structural variation, for lack or total absence of various muscle proteins, which leads to chronic damage of the often muscle fibers. Symptom is the increasing weakness and apparent shrinkage of the affected muscles.

Classification

Today's standard classification based on the classification of molecular genetic detectable gene mutations or the modified proteins. After the inheritance 2 groups: the autosomal dominant Gliedergürteldystrophien, LGMD1, and the autosomal recessive Gliedergürteldystrophien, LGMD2.

Autosomal dominant forms of Gliedergürteldystrophien

Autosomal recessive forms of Gliedergürteldystrophien

Diagnosis

In the derivation of the electrical muscle activity ( electromyography, EMG), there are non-specific signs of chronic muscle injury ( myopathy). Brain imaging techniques such as computed tomography ( CT) or magnetic resonance imaging (MRI ) can be prepared particularly affected muscle groups. Laboratory diagnosis is often a significantly increased creatine kinase striking. In suspected by clinical symptoms usually immunohistochemical or molecular genetic studies of muscle biopsy to confirm the diagnosis help.

Therapy

An established drug therapy is known, none of the Gliedergürteldystrophien. Symptomatic treatment focuses on physiotherapy measures to maintain muscle strength, to train everyday movements and to prevent contractures. However, a maximum strength training is considered unfavorable. Also important is a proper supply of aids in the form of rails ( orthotics ), cane, walker or wheelchair. When deformities of the feet or spine also operative treatment measures are in particular the restoration of walking ability in question. In one occurring impairment of speech motor control (dysarthria ) is a necessary speech therapy.

After surgery or other circumstances of limited mobility early mobilization is important because a longer immobilization of patients with limb- leads not infrequently that the ability to walk is lost. Physiotherapy should be started the day after surgery and performed consistently.

Cardiac involvement may require a treatment of conduction disorders and other diseases of the heart is possible.

History of Medicine

Most of the notion of Gliedergürteldystrophien is attributed to the work of John Nicholas Walton and Frederick John Natrass from 1954. Initial descriptions of Gliedergürteldystrophien go back on work of Ernst von Leyden and Paul Julius Möbius in 1876 or 1879.