Which are the symptoms of Limb-girdle muscular dystrophy?

Symptoms of Limb-girdle Muscular Dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that primarily affect the muscles around the hips and shoulders. It is characterized by progressive muscle weakness and wasting, leading to difficulties in walking, climbing stairs, and performing everyday activities. The symptoms of LGMD can vary widely depending on the specific subtype and individual case, but there are several common signs to look out for.

1. Muscle Weakness

Muscle weakness is the hallmark symptom of LGMD. It typically starts in the muscles around the hips and shoulders, gradually spreading to other muscle groups. The weakness is usually progressive, meaning it worsens over time. Initially, individuals may experience difficulty in activities that require strength, such as lifting heavy objects or getting up from a seated position.

2. Proximal Muscle Wasting

In LGMD, proximal muscle wasting refers to the loss of muscle mass in the muscles closest to the center of the body, such as the upper arms, thighs, and pelvic area. This can result in a thin and weakened appearance of these muscles. As the disease progresses, the wasting may become more pronounced.

3. Gait Abnormalities

Many individuals with LGMD experience gait abnormalities or difficulties with walking. This can manifest as a waddling gait, frequent stumbling or tripping, or an unsteady and uneven stride. As the disease advances, individuals may require assistive devices like canes, walkers, or wheelchairs to maintain mobility.

4. Muscle Cramps and Pain

Muscle cramps and pain are common symptoms in LGMD. Individuals may experience frequent muscle cramps, which can be painful and disruptive. The muscles may also feel achy or tender, especially after physical activity or prolonged periods of inactivity.

5. Difficulty Climbing Stairs and Rising from a Seated Position

Due to the weakness in the muscles around the hips and thighs, individuals with LGMD often have difficulty climbing stairs or rising from a seated position. These activities require significant strength in the lower body, which is compromised in LGMD. As a result, individuals may need assistance or modifications to perform these tasks.

6. Falls and Balance Issues

LGMD can affect balance and coordination, leading to an increased risk of falls. Individuals may have trouble maintaining their balance while walking or standing, making them more prone to stumbling or losing their footing. This can further impact their mobility and independence.

7. Respiratory Complications

In some cases of LGMD, respiratory muscles can be affected, leading to respiratory complications. This can result in difficulties with breathing, especially during physical exertion or while lying flat. It is important for individuals with LGMD to be monitored for any respiratory issues and receive appropriate medical care.

8. Cardiac Involvement

Certain subtypes of LGMD may involve the heart muscles, leading to cardiac complications. This can include abnormalities in heart rhythm (arrhythmias) or weakening of the heart muscle (cardiomyopathy). Regular cardiac evaluations are crucial to detect and manage any potential cardiac involvement.

It is important to note that the symptoms and progression of LGMD can vary significantly between individuals. Some may experience milder symptoms and slower disease progression, while others may have more severe symptoms and rapid deterioration. Genetic testing and consultation with a healthcare professional specializing in neuromuscular disorders are essential for an accurate diagnosis and appropriate management of LGMD.