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Muscular Dystrophy
Muscular Dystrophy Overview
Causes, Symptoms, and Treatment Options
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by specific patterns of muscle weakness. It commonly manifests in individuals under the age of 20 and primarily affects the muscles of the face, scapula (shoulder blade), and the dorsiflexion of the foot.
One of the prominent features of FSHD is weakness in the facial muscles, which can lead to difficulties in various facial expressions, such as smiling or closing the eyes tightly. This weakness can vary in severity among affected individuals.
In addition to facial muscle involvement, FSHD often affects the stabilizing muscles of the scapula. This can result in weakness or reduced mobility of the shoulder blades, leading to limitations in activities that require proper shoulder movement and stability.
CLINICAL DIAGNOSIS
The diagnosis of FSHD is suspected when an individual presents with bilateral facial weakness along with weakness in either the scapular stabilizers or foot dorsiflexion. In addition to these characteristic symptoms, the absence of certain features further supports the suspicion of FSHD. These features may include:
- Significant weakness or atrophy in other muscle groups: FSHD typically presents with selective muscle weakness in specific areas, such as the face, scapula, and foot dorsiflexors. The absence of significant weakness or atrophy in other muscle groups beyond these regions can be indicative of FSHD.
- Sensory changes: FSHD primarily affects the muscles, and it is not typically associated with sensory abnormalities such as numbness, tingling, or altered sensations. The absence of sensory changes can help differentiate FSHD from other conditions that involve both muscle weakness and sensory disturbances.
- Deep tendon reflex abnormalities: FSHD typically does not cause significant abnormalities in deep tendon reflexes, such as exaggerated or diminished reflexes. The absence of pronounced reflex abnormalities can provide additional support for a diagnosis of FSHD.
It is important to note that the diagnosis of FSHD requires a comprehensive evaluation by a healthcare professional with expertise in neuromuscular disorders. In addition to the clinical presentation and absence of certain features, genetic testing is often necessary to confirm the diagnosis. Genetic testing can detect specific mutations in the DUX4 gene, which is associated with FSHD.
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