scapuloperoneal myopathy

Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles, typically affecting the shoulder blade area (scapula) and the smaller leg muscle group below the knee (peroneal). Facial muscles may be affected in some cases. The symptoms often appear gradually, with the leg symptoms usually appearing before those in the shoulder blade area.

The condition is characterized by:

• Weakness and wasting of the scapular and peroneal muscles
• Gradual onset of symptoms
• Leg symptoms typically appearing before shoulder blade symptoms
• Facial muscles may be affected in some cases

According to [1], symptoms are usually limited to the scapula and peroneal areas. In some individuals, facial muscles may also be affected.

Scapuloperoneal myopathy is a rare condition, and its exact prevalence is unknown. However, it is considered a form of muscular dystrophy, which affects muscle strength and function [2].

The symptoms of scapuloperoneal myopathy can vary in severity and progression, but they often include:

• Muscle weakness
• Muscle wasting
• Difficulty walking or standing
• Scapular winging (a condition where the shoulder blade protrudes outward)

It's essential to note that scapuloperoneal myopathy is a rare condition, and its symptoms can be similar to those of other muscular dystrophies. A proper diagnosis by a healthcare professional is necessary for an accurate understanding of the condition.

References:

[1] Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles. Symptoms are usually limited to the shoulder blade area (scapula) and the smaller leg muscle group below the knee (peroneal). Facial muscles may be affected in a few cases. The leg symptoms often appear before the shoulder... (Source: [1])

[2] X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. Some cases of scapuloperoneal myopathy are caused by genetic changes in the FHL1 gene. (Source: [2])

Scapuloperoneal myopathy is a rare genetic disorder characterized by weakness and wasting of certain muscles, particularly those in the shoulder girdle and peroneal region.

Common signs and symptoms:

• Weakness or wasting of muscles in the scapular (shoulder blade) area [3]
• Difficulty walking on heels due to weakness in the lower limb muscles [4]
• Winged scapulae, where the shoulder blades protrude outward from the back [4]
• Diminished or absent deep tendon reflexes [4]
• Vocal cord weakness or paralysis [4]
• Muscle wasting and weakness in the distal muscles of the lower limbs and muscles of the shoulder girdles [15]

Additional features:

• Thin habitus (body build) [11]
• High-arched palate [11]
• Foot drop, pes cavus (high arches), calf pseudohypertrophy, and decreased deep tendon reflexes [11]

These symptoms can vary in severity and may be accompanied by other signs and symptoms, such as facial weakness, dysphagia (difficulty swallowing), and gynaecomastia (breast tissue growth in males) [14].

It's essential to note that scapuloperoneal myopathy is a rare condition, and not everyone will experience all of these symptoms. If you or someone you know is experiencing any of these signs and symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References:

[3] Oct 12, 2007 [4] Patients present difficulty walking on heels, winged scapulae, and diminished or absent deep tendon reflexes. [11] ... (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased ... [14] by MC Walter · 2007 · Cited by 110 — Facial weakness, dysphagia and gynaecomastia were frequent additional symptoms. ... In addition, mutations of the desmin gene should be considered ... [15] Two members of a family are described with muscle weakness and wasting affecting distal muscles of the lower limbs and muscles of the shoulder girdles. An autosomal dominant mode of inheritance is suggested with involvement of a 39-year-old female and her 15-year-old daughter.

Scapuloperoneal myopathy can be challenging to diagnose, but various diagnostic tests can help confirm the condition. Here are some of the key diagnostic tests for scapuloperoneal myopathy:

• Electromyogram (EMG): An EMG is a test that measures the electrical activity of muscles. It can help identify muscle damage and confirm the diagnosis of scapuloperoneal myopathy [6].
• Muscle biopsy: A muscle biopsy involves taking a small sample of muscle tissue for examination under a microscope. This test can provide information on muscle cell structure and function, which can be abnormal in scapuloperoneal myopathy [7][9].
• Genetic testing: Genetic testing can confirm the diagnosis of X-linked scapuloperoneal myopathy by revealing a pathogenic mutation in the FHL1 gene. This test is particularly useful for diagnosing inherited forms of the condition [2][5].
• Mutation analysis: Targeted mutation analysis and sequence analysis of selected exons can also be used to confirm the diagnosis of X-linked scapuloperoneal myopathy [5].

It's worth noting that a combination of these tests may be necessary to confirm the diagnosis of scapuloperoneal myopathy. A healthcare professional will interpret the results of these tests and use them in conjunction with clinical features and other diagnostic information to make an accurate diagnosis.

References:

[2] Clinical resource with information about X-linked scapuloperoneal muscular dystrophy and its clinical features, FHL1, available genetic tests from US and ...

[5] Diagnosis of X-linked Scapuloperoneal Myopathy (FHL1 gene) · Targeted mutation analysis · Mutation scanning/screening and sequence analysis of selected exons.

[6] Oct 18, 2024 — These studies test the electrical patterns of muscles and nerves. They can help to confirm the diagnosis, but results from these tests can be ...

[7] by RM Domingo-Horne · 2018 · Cited by 17 — Electrodiagnostic Testing. An electromyogram should be considered in all patients with suspected myopathy. · Muscle Biopsy. Muscle biopsy is ...

[9] by MC Walter · 2007 · Cited by 110 — Morphological and ultrastructural examination of the biceps brachii muscle revealed unspecific signs of myopathy. Immunohistochemical staining for desmin ...

Current Treatment Options for Scapuloperoneal Myopathy

Unfortunately, there is no effective treatment available to date for scapuloperoneal myopathy (SPM). However, researchers are exploring new targeted gene therapies and medications aimed at calcium/myosin regulation, which may offer promising avenues for future treatment [7].

Medications Under Investigation

Recent studies have highlighted the potential of ephedrine in treating plectinopathies, a type of SPM. While this medication shows promise, it is essential to note that no specific treatment is available for SPM at present [9].

General Treatment Approach

In the absence of targeted treatments, corticosteroids are often used as a mainstay of treatment for various myopathies, including SPM. However, these drugs can be burdened with significant side effects and may not provide long-term benefits [6].

Importance of Early Diagnosis and Management

Early diagnosis and management of SPM are crucial in slowing disease progression and improving quality of life. Patients should work closely with their healthcare providers to develop a comprehensive treatment plan that addresses their specific needs.

References:

• [7] New targeted gene therapies and medications aimed at calcium/myosin regulation are under investigation.
• [9] To date, no specific treatment is available for plectinopathies. In this context, it is noteworthy that a medication with ephedrine in ...
• [6] Idiopathic inflammatory myopathies (IIM) are a rare disease; so far standardized therapy has not been adequately defined by national or international guidelines or recommendations. Corticosteroids are the mainstay of treatment, but these drugs are burdened ...

Differential Diagnosis of Scapuloperoneal Myopathy

Scapuloperoneal myopathy, also known as scapuloperoneal syndrome, is a rare neuromuscular disorder characterized by weakness and wasting of the muscles in the shoulder girdle and lower legs. The differential diagnosis of this condition involves identifying other possible causes of similar symptoms.

Possible Differential Diagnoses:

• Scapuloperoneal syndrome with distal sensory loss in the limbs (Davidenkow's syndrome): This is a rare neuromuscular disorder that presents with scapuloperoneal weakness, distal sensory loss, and other systemic features. [1]
• Facioscapulohumeral muscular dystrophy: This is an autosomal dominant inherited disorder characterized by progressive muscle weakness and wasting, primarily affecting the face, shoulder girdle, and upper arm muscles. [6]
• Muscular dystrophy: The results of electromyography and muscle biopsy in scapuloperoneal myopathy cases support a diagnosis of muscular dystrophy. [3]

Other Conditions to Consider:

• Skeletal myopathies: These include congenital myopathies, late-onset myopathies, myosin storage myopathy, and other conditions that affect the muscles. [2]
• Cardiomyopathies: These are conditions that affect the heart muscle, including dilated, hypertrophic, and left ventricular noncompaction cardiomyopathies. [2]

Genetic Mutations:

• Desmin mutations: Desmin is a protein that provides structural support to muscles. Mutations in the desmin gene have been associated with various neuromuscular disorders, including scapuloperoneal syndrome and facioscapulohumeral muscular dystrophy. [5], [8]

References:

[1] Davidenkow's syndrome is a rare neuromuscular disorder that presents with scapuloperoneal weakness, distal sensory loss, and other systemic features.

[2] Skeletal myopathies and cardiomyopathies are conditions that affect the muscles and heart muscle, respectively.

[3] The results of electromyography and muscle biopsy in scapuloperoneal myopathy cases support a diagnosis of muscular dystrophy.

[5] Desmin mutations have been associated with various neuromuscular disorders, including scapuloperoneal syndrome and facioscapulohumeral muscular dystrophy.

[6] Facioscapulohumeral muscular dystrophy is an autosomal dominant inherited disorder characterized by progressive muscle weakness and wasting, primarily affecting the face, shoulder girdle, and upper arm muscles.

[8] Desmin mutations have been associated with various neuromuscular disorders, including scapuloperoneal syndrome and facioscapulohumeral muscular dystrophy.