Which are the symptoms of Multiminicore Myopathy?

Symptoms of Multiminicore Myopathy

Multiminicore myopathy is a rare genetic muscle disorder that primarily affects the skeletal muscles. It is characterized by the presence of multiple small cores within the muscle fibers, which can lead to muscle weakness and other associated symptoms. The severity and progression of symptoms can vary widely among affected individuals.

1. Muscle Weakness:

Muscle weakness is a hallmark symptom of multiminicore myopathy. It typically begins in childhood and can affect various muscle groups, including the arms, legs, trunk, and respiratory muscles. The weakness may be mild or severe, and it can lead to difficulties with walking, running, climbing stairs, and performing everyday tasks.

2. Delayed Motor Development:

Delayed motor development is commonly observed in individuals with multiminicore myopathy. Infants may have delayed acquisition of motor milestones such as sitting, crawling, and walking. This delay is often attributed to muscle weakness and impaired muscle function.

3. Respiratory Complications:

In some cases, multiminicore myopathy can affect the muscles involved in breathing, leading to respiratory complications. This can manifest as shortness of breath, reduced lung capacity, and an increased susceptibility to respiratory infections. Severe respiratory involvement may require respiratory support or assisted ventilation.

4. Joint Contractures:

Joint contractures are a common feature of multiminicore myopathy. They result from the progressive tightening and shortening of muscles and tendons, leading to limited range of motion in the affected joints. Contractures can affect the hips, knees, elbows, and ankles, and may contribute to difficulties with mobility.

5. Scoliosis:

Scoliosis, an abnormal curvature of the spine, is frequently observed in individuals with multiminicore myopathy. The severity of scoliosis can vary, and it may require medical intervention such as bracing or surgery to prevent further progression and maintain spinal alignment.

6. Muscle Pain and Fatigue:

Some individuals with multiminicore myopathy may experience muscle pain and fatigue. These symptoms can be exacerbated by physical activity or prolonged muscle use. Muscle pain may be localized to specific muscle groups or generalized throughout the body.

7. Other Possible Symptoms:

In addition to the aforementioned symptoms, multiminicore myopathy can be associated with other features such as facial weakness, swallowing difficulties, cardiac abnormalities, and abnormalities in muscle enzymes (e.g., elevated creatine kinase levels).

It is important to note that the presentation and severity of symptoms can vary significantly among individuals with multiminicore myopathy. Some individuals may have mild symptoms and a relatively normal lifespan, while others may experience more severe symptoms and complications that can impact their quality of life.