Limb Girdle Dystrophy

Limb Girdle Dystrophy (LGD)

Acronyms Medical

The limb- is a group of myopathies of the link belt. The diseases are caused by genetic mutations and are considered incurable. The goal is to maintain mobility through physical and occupational therapy.

What is girdle dystrophy?

The shoulder girdle and the pelvic girdle together form the articulated girdle. Limb girdle dystrophy is a group of myopathies of the pelvic and shoulder girdle that are associated with paralysis in these areas. Myopathies are muscular diseases of the striated skeletal muscles.

In addition to the muscle paralysis, the typical symptoms of muscular dystrophy appear in the context of myopathic limb girdle dystrophy. Muscular dystrophies manifest themselves in remodeling processes within the muscle tissue. The diseases from the group of limb girdle dystrophy are genetic and show clinical and genetic heterogeneity. They have different gene mutations as the cause.

Some diseases from the group are also due to the same gene mutations, but show a variable clinical picture. The onset of limb girdle dystrophy can be as early as infancy. Dystrophy can just as easily manifest itself in advanced adulthood. In addition to mild courses, severe courses of the limb girdle dystrophies were observed. All in all, the diseases are extremely rare diseases, the prevalence of which is estimated to be between one case under 14500 and one case under 123000.


Every disease from the group of limb girdle dystrophies is due to a genetic mutation. Autosomal dominant forms of the disease are sometimes rare and do not manifest themselves until adulthood. These forms of the disease can be based on various mutations, for example those in the LGMD1A gene at locus 5q22-q34, in the LGMD1B gene at locus 1q22, around LGMD1C gene at locus 3p25.3 or in the LGMD1D gene with locus 6q23.

Mutations in the LGMD1E gene, in the LGMD1F gene, in the LGMD1G gene and in the LGMD1H gene at locus 3p25.1-p23 can also be the cause. The autosomal recessive form of the disease manifests itself in part in early childhood and usually has a more severe course. The causal mutations range from LGMD2A, LGMD2B, LGMD2C, LGMD2D, LGMD2E and LGMD2F genes to LGMD2G, LGMD2H, LGMD2I, LGMD2J and LGMD2K genes. In addition, some

Patients found causative mutations in the LGMD2M, LGMD2N, LGMD2O, LGMD2P, LGMD2Q, and LGMD2R genes. Girdle dystrophy can equally well be due to mutations in the LGMD2S, LGMD2T, LGMD2U, LGMD2V, or LGMD2W genes. The gene products encoded by the individual genes range from proteins to enzymes. To list them all at this point would go beyond the scope of this article.

Symptoms, ailments & signs

The symptoms of girdle dystrophy depend on the mutated gene and its gene product. In almost every disease from the superordinate group, however, paralysis of the muscles in the limb girdle occurs, the severity of which can vary depending on the mutation. Some girdle dystrophies only have muscle weakness in the girdle.

Others experience severe paralysis, some of which can affect the face or legs. In exceptional cases, the heart muscle is involved in the symptoms. Especially when the limb girdle dystrophy begins in early childhood, the motor development of the patient is usually disturbed. The muscle weaknesses and paralysis can be associated with cramps.

In some cases, muscle breakdown also occurs. Muscle pain is also a characteristic phenomenon in many subspecies of the disease. With certain mutations, the symptoms of girdle dystrophy can be associated with symptoms of mental retardation. Whether the pelvis, legs, calves or shoulder area are more likely to be affected by symptoms such as muscle weakness depends on the causal mutation in each individual case.

Diagnosis & course

When diagnosing limb girdle dystrophy, the doctor’s anamnetic presumably first suspects it. As part of the investigation, he usually arranges for an [[electromyography], which provides unspecific evidence of chronic damage to the muscles. Imaging such as computed tomography and magnetic resonance tomography are suitable for a closer display of affected muscle groups.

Laboratory diagnostics can indicate an increase in creatine kinase for the dystrophy. In most cases, the suspected diagnosis is confirmed by an immunohistochemical or molecular genetic examination of the muscle biopsy. The molecular genetic analysis can also narrow down which disease from the group of limb girdle dystrophies is involved. The prognosis depends on the causative gene mutation and the age of onset.

The earlier the manifestation, the more unfavorable the prognosis is usually. In addition, the involvement of the heart muscle greatly worsens the prognosis. In some subgroups of dystrophy, the ability to walk remains up to about 25 years after the onset of the disease. In some cases, science also assumes an individual course that even promises a longer ability to walk. In other cases an early fatal outcome applies.


Limb girdle dystrophy is a genetically determined muscle disease that progressively develops. The disease affects the muscles of the shoulder and pelvic girdles. This so-called limb belt forms the striated skeletal muscles that support the musculoskeletal system. As the symptom progresses, the musculoskeletal system is increasingly switched off and serious complications arise.

Among other things, muscle paralysis occurs, which not only affects the extremities, but can also affect the face and speech motor skills. For the patient, a limb girdle dystrophy has a very life-limiting effect. If the symptom breaks out in childhood, it can even negatively affect the activity of the heart muscle and motor development. Concomitant symptoms are cramps, muscle pain, muscle breakdown and loss of walking.

An early diagnosis can determine the type of mutation and also whether the symptom is more pronounced in the lower or upper body area. There are certainly patients whose entire body is affected by the symptom. The sooner a limb girdle dystrophy is diagnosed, the more effective the medical therapy can be.

The disease is so far not curable. Only the course and a relatively certain mobility can be influenced by specific occupational and physiotherapeutic measures. After the onset of the disease, the patient usually has around 25 years until complete loss of walking occurs.

When should you go to the doctor?

People who suffer from paralysis should always consult a doctor. If the limb girdle dystrophy has already been diagnosed in other relatives within the family, a doctor should be consulted for clarification. Help is needed if the shoulders or pelvis are compromised.

Help is needed if there are restrictions on movement, reduced performance or if everyday activities can no longer be carried out as usual. A doctor’s visit is required in the event of unsteady gait, an increased risk of accidents or a loss of normal mobility. There is also cause for concern in the case of problems with the heart muscle. If there are disorders of the heart rhythm system, increased tiredness or drowsiness, a doctor must be consulted. Muscle weakness or cramps on the body are considered unusual and should be examined by a doctor.

If the symptoms spread to the legs, calves or face, a doctor should be consulted. If the person concerned suffers from psychological complaints in addition to physical impairments, the support of a therapist should be sought.

Consultation with a doctor or therapist should be sought in the event of fear, a phobic appearance, reduced self-esteem or social withdrawal. Behavioral problems, a change in personality, indifference, the persistent loss of joie de vivre or apathy are reasons for consulting a therapist.

Treatment & Therapy

Causal therapy is not available for patients with limb girdle dystrophy. Established symptomatic therapies using medication are also not known for any of the limb girdle dystrophies. Physiotherapeutic measures are the focus of symptomatic therapy and should maintain the remaining muscle strength.

In occupational therapy care, the patients are also trained in everyday movements in order to avoid falls and contractures. Maximum strength training has an unfavorable effect on the course and should be avoided. As soon as it becomes necessary, the patients are provided with aids in the form of orthoses, walking sticks or a walker. They learn how to use these aids properly during occupational therapy.

At a certain stage of the disease, the wheelchair is usually inevitable. Wheelchair training can also take place as part of physiotherapy care. If the patients develop malpositions due to the disease, surgical treatment measures to restore the ability to walk can be considered. As soon as the speech motor skills are impaired, those affected may receive speech therapy treatment.

If patients are immobile for a long time due to certain living conditions or operations, they often completely lose their remaining ability to walk. Immobile phases should therefore be avoided as far as possible. If the heart muscle is involved, conduction disorders can be treated, for example.

Outlook & forecast

The prospects can be described as mixed. Medical science has not yet developed a method to prevent the disease of the shoulder and pelvic girdle muscles. The limb girdle dystrophy is so far not curable.

Maintaining mobility can, however, be promoted through occupational and physiotherapeutic measures. In the best-case scenario, patients then remain for 25 years until the loss of walking occurs. An early diagnosis gives doctors and therapists a lot of leeway to contain the progression of the disease.

The prognosis is usually less good for patients who are diagnosed with the typical symptoms at an advanced stage. Paralysis and muscle pain refer to this. Diseases of the heart and respiratory muscles regularly lead to complications. The lifespan is usually shortened considerably.

The prospects for diagnosing girdle dystrophy also include a look at the living conditions. Sooner or later, those affected have to be prepared to use aids. Initially, patients get by with a walking stick. If the disease develops further, the use of a wheelchair is inevitable. Restrictions are common in everyday life, even with less pronounced features. The quality of life is at a low level.


Belt dystrophy can only be prevented through genetic counseling during family planning.


In the case of limb girdle dystrophy, there are hardly any measures or options for follow-up care available to the person affected. As a rule, this disease cannot be completely cured, as it is a genetic disease, so that it can only be treated symptomatically and not causally. For this reason, an early diagnosis is very important so that there are no further complications or complaints.

As a rule, an early diagnosis always has a positive effect on the further course of the limb girdle dystrophy. The treatment takes place with the help of measures of physiotherapy or physiotherapy. In this way, the mobility of the person affected can be increased again. In many cases, the person affected can also perform the exercises from these therapies in their own home and thus possibly accelerate the healing process.

Help and care from one’s own family and from friends and acquaintances can also make everyday life much easier for those affected. In most cases, contact with other patients with limb girdle dystrophy also has a positive effect on the course of the disease, so that information is exchanged. The life expectancy of the person affected is usually not reduced by the disease.

You can do that yourself

The patients face the limitations of their mobility caused by the limb girdle dystrophy on their own initiative and also carry out physiotherapy exercises at home.

They first practice the corresponding training options with a physiotherapist, whose treatment they are usually constantly undergoing. The additional implementation of strengthening exercises at home improves mobility and thus to a certain extent increases the general quality of life.

If the mobility restrictions are too severe, various walking aids are used to support them. Patients also use these at home and during activities outside of the home, making locomotion much easier.

They also prevent certain accidents and injuries, as the walking aids offer more safety during movement. Basically, patients with limb girdle dystrophy take care not to overstrain themselves and to keep enough rest phases so that the muscles do not become overstrained.

If a surgical procedure is necessary, the patients themselves then help to quickly regain various movement sequences. These exercises are carried out in consultation with the doctor and reduce the risk of completely losing the ability to walk after the operation. In this context, the physiotherapeutic treatment begins shortly after the operation, the success of which the patient encourages through his own initiative.

Limb Girdle Dystrophy