Duchenne Muscular Dystrophy (DMD)

What is Chronic Subdural Hematoma (CSDH)?

Chronic subdural hematoma (CSDH) is a medical condition that occurs when blood accumulates between the brain and the outermost layer of the brain, known as the dura mater. This condition is more common in older adults but can also occur in younger individuals.

Causes and Risk Factors of CSDH

CSDH is usually caused by a head injury, even a minor one, that causes bleeding in the brain. However, in some cases, there may be no apparent cause. The risk of developing CSDH increases with age, and it is more common in men than women. Other risk factors for CSDH include alcohol abuse, blood-thinning medications, and certain medical conditions, such as liver disease and blood clotting disorders.

Symptoms of CSDH

The symptoms of CSDH can vary depending on the size and location of the hematoma. Therefore, some people may not experience symptoms, while others may experience severe symptoms. However, the most common symptoms of CSDH include persistent headaches, confusion, seizures, weakness or numbness on one side of the body, nausea, and vomiting.

Diagnosing CSDH

A medical history, a physical and neurological exam, and imaging tests, such as a CT scan or MRI, are necessary to confirm the diagnosis. These tests can show the size and location of the hematoma and help determine the best course of treatment.

Treatment Options for CSDH

The treatment of CSDH depends on the size and location of the hematoma and the person’s overall health. In some cases, the hematoma may resolve on its own without treatment. However, if the hematoma is causing symptoms or is large, treatment may be necessary.

Medications for CSDH

Medications, such as corticosteroids, may be prescribed to reduce inflammation and swelling in the brain. Drainage is recommended if the hematoma is large or causes symptoms. The drainage involves making a small hole in the skull and using a catheter to drain the blood from the brain. This procedure is usually done under local anesthesia and as an outpatient procedure.

Surgery for CSDH

In some cases, surgery may be necessary to remove the hematoma; that is usually done under general anesthesia and involves making a larger incision in the skull to remove the blood from the brain.

Recovery and Complications of CSDH

The recovery from CSDH depends on the size and location of the hematoma and the person’s overall health. Most people recover fully from CSDH with treatment. However, some people may experience long-term complications, such as seizures, memory problems, or weakness on one side of the body.


Introduction to Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic disorder affecting the muscles of boys and young men. The most severe type affects boys and young men who inherit the genetic defect responsible for the disease. It is characterized by progressive muscle weakness and loss of muscle mass and is typically fatal in early adulthood due to complications of muscle weakness and wasting.

Causes and Mechanisms of DMD

DMD is caused by a recessive mutation in the gene that encodes for dystrophin, a protein responsible for maintaining the structural integrity of muscle cells. Without this protein, muscles quickly break down and weaken, leading to progressive disability and premature death. DMD affects approximately 1 in 3,500 boys and is characterized by impaired physical function and cognitive, behavioral, and learning impairments.

Symptoms and Effects of DMD

Early DMD symptoms include difficulty climbing stairs, walking, and running. As muscle weakness progresses, affected individuals have difficulty lifting their arms, buttons, zippers and a waddling gait. The disease affects the entire body, causing problems with the heart, lungs, and other internal organs. Individuals may also experience difficulty swallowing and are at risk for respiratory infections because of weakened respiratory muscles.

Current Research and Treatment Options

Although there is currently no cure for DMD, research has been conducted to understand the genetic mutation responsible and to develop treatments to slow down the progression of the disease. Research has established that restoring the lost dystrophin protein could reverse the effects of muscular dystrophy and possibly stop its progression. This led to gene therapy development, where viral or non-viral vectors introduce a portion of functional dystrophin into the body.

Gene Therapy for DMD

The most advanced potential treatment is exon skipping, where a portion of the dystrophin gene is removed, thus allowing a functional messenger RNA (mRNA) to be formed.

Medications and Therapies for DMD Management

In addition to gene therapy, there are medications to help manage muscle stiffness and spasms and steroids to help reduce inflammation and improve muscle strength. Physical and occupational therapy can also help maintain and improve strength, flexibility, and coordination.

Assistive Devices and Support for DMD

Patients Assistive devices such as wheelchairs, canes, and walkers can help individuals with Duchenne muscular dystrophy maintain independence. Support groups, educational resources, and new treatments can give individuals and their families the information and resources they need to cope with the condition.