facioscapulohumeral muscular dystrophy 3

Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy). This condition affects the muscles of the face, shoulder blades, and upper arms, leading to progressive muscle weakness and loss of muscle tissue.

Key Features:

• Muscle weakness and wasting in the face, shoulder blades, and upper arms
• Progressive muscle weakness and loss of muscle tissue over time

This information is based on search result [3], which describes FSHD as a disorder characterized by muscle weakness and wasting.

Facioscapulohumeral Muscular Dystrophy (FSHD) Signs and Symptoms

Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting, particularly affecting the muscles of the face, around the shoulder blades, and in the upper arms. The signs and symptoms of facioscapulohumeral muscular dystrophy can vary in severity and progression.

Common Signs and Symptoms:

• Muscle weakness and wasting (atrophy) in the face, shoulders, and upper arms
• Difficulty moving the lips or whistling due to cheek muscle weakness
• Decreased facial expression due to facial muscle weakness
• Eyelid drooping
• Scapular winging (shoulder blades that stick out from the back)
• Trouble reaching up with the arms or throwing a ball

Age of Onset and Progression:

The age of onset, progression, and severity of facioscapulohumeral muscular dystrophy can vary greatly. Symptoms may develop during the teen years, with most people noticing some problems by age 20. However, weakness in some muscles can begin as early as infancy or as late as the 50s.

References:

• [3] Description. Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral).
• [11] Signs and Symptoms. The age of onset, progression, and severity of facioscalpulohumeral muscular dystrophy (FSHD) vary a great deal.
• [5] Signs & Symptoms. FSHD may initially involve weakness of muscles of the face, shoulder girdle and arms. Facial weakness may result in limited movements of the lips, causing difficulties with whistling or smiling.
• [7] Symptoms · Eyelid drooping · Inability to whistle due to weakness of the cheek muscles · Decreased facial expression due to weakness of facial muscles · Depressed ...

Diagnostic Tests for Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that affects the muscles. Diagnostic tests are essential to confirm the clinical diagnosis of FSHD. Here are some diagnostic tests used to diagnose FSHD:

• Blood Tests: Blood tests, such as checking enzyme levels like serum creatine kinase and serum aldolase, can help identify issues with muscle function [3]. Elevated levels of these enzymes may indicate muscle damage.
• Electromyography (EMG): EMG is a test that measures the electrical activity of muscles. It can show mild myopathic changes, which are characteristic of FSHD [4].
• Muscle Biopsy: Although muscle biopsy has largely been replaced by genetic testing, it may still be used in some cases to confirm the clinical diagnosis of FSHD.
• Genetic Testing: Genetic testing is the most common method of diagnosing FSHD. It involves analyzing DNA for mutations that cause the disease [5]. Southern blot analysis using double digestion with EcoRI alone or EcoRI/BlnI can be used to diagnose FSHD Type 1 [5].
• Other Tests: Other tests, such as electrocardiogram (ECG), echocardiogram, and electromyography (EMG), may also be performed to check for related health problems, especially heart function.

References:

[3] Blood tests can help identify issues with muscle function. [4] EMG usually shows mild myopathic changes in FSHD patients. [5] Genetic testing is the most common method of diagnosing FSHD. [6] Exams and Tests; Blood creatine kinase levels; Electrocardiogram (ECG); Electromyography (EMG); Fluorescein angiography; Muscle biopsy (may be used in some cases). [7] Heart-monitoring tests, such as electrocardiography and echocardiogram, are used to check heart function. [8] Whole-genome optical mapping for FSHD Type 1 is a genetic diagnostic test offered by several labs.

Current Status of Drug Treatment for FSHD

Unfortunately, there are currently no FDA-approved drug treatments for facioscapulohumeral muscular dystrophy (FSHD), an inherited disorder that affects approximately 1 in 20,000 people worldwide [3]. Despite ongoing research and development of new therapies, the disease remains largely untreatable.

Research Efforts

However, researchers are actively exploring various potential therapeutic approaches to address FSHD. Some studies have investigated the use of diltiazem, a calcium channel blocker commonly used in hypertension, as a possible treatment for FSHD [1]. Additionally, new drugs are being developed that target the genetic defect or the toxic DUX4 protein associated with FSHD [4].

Current Management Strategies

In the absence of effective drug treatments, management strategies for FSHD focus on supportive care. This includes:

• Occupational therapy to help improve activities of daily living
• Oral albuterol to increase muscle mass (although not strength)
• Speech and language therapy to address communication difficulties
• Pain management using simple painkillers and anti-inflammatory drugs [5]

Future Directions

While there is no cure for FSHD, ongoing research holds promise for the development of novel treatments. Regular exercise and hydrotherapy can help maintain muscle function and overall well-being [8]. As researchers continue to explore new therapeutic avenues, it is essential to stay informed about emerging developments in this area.

References:

[1] Aguirre, AS (2023) - Diltiazem as a possible treatment for FSHD [3] Jul 2, 2024 - Current status of drug treatments for FSHD [4] Dec 4, 2023 - New drugs being developed for FSHD [5] Dec 31, 2023 - Management strategies for FSHD [8] Apr 12, 2023 - Regular exercise and hydrotherapy for maintaining muscle function

The differential diagnosis for facioscapulohumeral muscular dystrophy (FSHD) includes a subset of limb-girdle muscular dystrophies, scapuloperoneal myopathy/muscular dystrophy/neuronopathy, and rare mitochondrial myopathies [6][7].

Some specific conditions that are included in the differential diagnosis of FSHD are:

• Limb-girdle muscular dystrophy (especially calpainopathy)
• Scapuloperoneal myopathy
• Mitochondrial myopathy

These conditions can present with similar symptoms to FSHD, such as muscle weakness and wasting, making it essential to perform a thorough diagnostic evaluation to determine the correct diagnosis [6][7].

According to a review by BT Darras, the differential diagnosis of FSHD also includes other rare conditions, but these are less common [4].