Limb-Girdle Dystrophy

LIMB-GIRDLE DYSTROPHY

Limb-girdle dystrophy. A class of uncommon muscular dystrophies known as limb-girdle muscular dystrophy results in weakening in the muscle of the upper arms, shoulders, hips, and upper legs. The subtypes vary according to the gene that has been mutated. Treatment includes using a variety of techniques, such as physical therapy, assistive technology, and medicine, to manage symptoms.

LIMB-GIRDLE DYSTROPHY

Several uncommon forms of muscular dystrophy that result in weakness in the shoulders, upper arms, hips, and upper legs are collectively referred to as limb-girdle muscular dystrophy. All ages are affected by LGMD, a chronic (lifelong) illness. The bone structures that encircle your shoulder and pelvis are known as your “limb girdles.” The muscles surrounding these regions are impacted by LGMD. The term “muscular dystrophy” describes a collection of hereditary disorders that impair muscle function. Muscular dystrophy symptoms typically get worse with time.

Signs

Limb-girdle muscular dystrophy is characterized by atrophy (loss) and weakening of the muscles in the following areas:

Shoulders.
upper arms.
Hips.
legs up.
The subtype of LGMD affects the age at which symptoms start and the rate at which they worsen.
Walking difficulties could be the initial indication of LGMD. The following are particular signs of weakening in the hip and upper leg muscles:

a waddling stride, or manner of walking.
Having trouble getting up from a seated position, such as a chair or toilet.
Stair climbing is difficult.
Reaching over your head is one of the specific symptoms of weakening in the shoulder and upper arm muscles.
Keeping your arms extended.
transporting bulky items.
feeding oneself.

Causes

Limb-girdle muscular dystrophy results from mutations (alterations) in the genes that govern normal muscle form and function. Over time, muscle weakness develops because the cells that would usually maintain your muscles are unable to do this function due to the mutations. Each subtype of LGMD is associated with distinct gene alterations.
Your biological parents may pass these genetic mutations on to you. Limb-girdle muscular dystrophy can be divided into two main categories according to how the mutations are inherited: The D group of LGMD.: These LGMDs are caused by patterns of autosomal dominant inheritance. This implies that the disorder can be acquired by simply inheriting the defective gene from one of your biological parents.

Treatment

The primary objective of physical and occupational therapy is to strengthen and stretch your muscles, which can help you maintain your ability to move and find easier ways to perform daily tasks. Corticosteroids: These medications, which include deflazacort and prednisolone, may help delay the progression of cardiomyopathy, improve lung function, delay scoliosis, and delay muscle weakness. However, they may only be helpful for a few subtypes of LGMD, particularly those related to LGMD R9 FKRP.

Mobility aids: You can increase your mobility and reduce the risk of falls by using devices like wheelchairs, walkers, braces, and canes. They may also lessen weariness.
Surgery: To address scoliosis, or the curvature of the spine, and to release tension in tense muscles, some individuals with LGMD may require surgery.

Summary

It might be quite difficult to comprehend your limb-girdle muscular dystrophy (LGMD) diagnosis. A comprehensive management plan tailored to your symptoms will be provided by your healthcare team. It’s crucial to pay attention to your health and make sure you’re receiving the assistance you require. Rest assured that you and your family will have the support of your healthcare staff.