hyaline body myopathy

Hyaline Body Myopathy: A Rare Congenital Muscle Disorder

Hyaline body myopathy (HBM) is a rare, chronic nonprogressive congenital myopathy characterized by the formation of protein clumps, called hyaline bodies, within certain muscle fibers [6][4]. This condition affects the muscles' ability to function properly, leading to weakness and atrophy in various parts of the body.

Key Features:

• Muscle Weakness: HBM is marked by progressive muscle weakness, particularly in the proximal (closer to the trunk) and distal (further from the trunk) muscles [3][8].
• Hyaline Bodies: The presence of hyaline bodies within type 1 muscle fibers is a hallmark of this condition. These bodies are composed of amorphous granular material, which can be seen under electron microscopy [5][15].
• Childhood-Onset: HBM typically presents in childhood or adolescence and follows a non-progressive course [3][8].

Genetic Aspects:

Recent studies have identified mutations in the slow/β-cardiac myosin heavy chain gene (MYH7) as a potential cause of HBM [2]. This suggests that genetic factors may play a role in the development of this condition.

Clinical Resource:

For more information on hyaline body myopathy, including clinical features, available genetic tests, and practice guidelines, please refer to clinical resources such as GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, and PharmGKB [12].

References:

[1] Cancilla et al. (1971) [2] MV Shingde (2006) [3] RJ Barohn (1994) [4] Feb 1, 2013 [5] MV Shingde (2006) [6] Feb 1, 2013 [7] MF Rafay (2005) [8] Disease definition. [9] by MV Shingde · 2006 · Cited by 37 — [10] Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance. Methods: We describe a patient with congenital HBM with progression of weakness and increasing muscle pain in adulthood. Three muscle biopsies, done at various times in her life, are reported. [11] Birth Hyaline Body Myopathy 259 Fig. 2. There is no oxidative staining in the hyaline body. In some areas there is a rim of oxidative enzyme activity at the margin of the hyaline body and the sarcoplasm (white arrow). There is patchy staining of intramofibrillar network. NADH-tetrazolium reductase x 400. [12] Clinical resource with information about Hyaline body myopathy and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [13] Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness. Recently, a single mutation (Arg1845Trp) in the slow/β-cardiac myosin heavy chain gene (MYH7) was identified in four unrelated ... [14] Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance. We describe a patient with congenital HBM with progression of weakness and ... [15] Electron microscopy showed the hyaline bodies to contain amorphous granular material of unknown composition. No membrane separated the hyaline bodies from the surrounding sarcoplasm. Hyaline body myopathy most likely represents a distinct congenital myopathy because of its childhoot-onset, non-progressive course, and distinct morphological ...

Muscle Weakness and Delayed Motor Milestones

Hyaline body myopathy, also known as myosin storage myopathy, is characterized by muscle weakness that typically becomes noticeable in childhood. Affected individuals may start walking later than usual and have a waddling gait due to muscle weakness [1][2]. This condition can also cause trouble climbing stairs and difficulty with running [3].

Progressive Muscle Weakness

As the disease progresses, affected individuals may experience slowly progressive muscle weakness and increasing muscle pain [4]. The symptoms of hyaline body myopathy can vary in severity and progression, but they often become apparent during childhood or early adolescence.

Other Symptoms

In some cases, hyaline body myopathy can be associated with other symptoms such as delayed motor milestones, difficulties in climbing stairs or running, and a waddling gate [5]. However, it's essential to note that the presentation of this condition can vary widely among affected individuals.

References:

[1] Hyaline body myopathy is an inherited condition affecting muscles. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later.

[2] Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty running.

[3] Feb 1, 2013 — Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and ...

[4] Hyaline body myopathy causes slowly progressive muscle weakness and increasing muscle pain

[5] Presenting signs and symptoms are often delayed motor milestones, difficulties in climbing stairs or running and a waddling gate.

Diagnostic Tests for Hyaline Body Myopathy

Hyaline body myopathy, also known as hyaline body inclusion myopathy, is a rare congenital myopathy that can be diagnosed through various diagnostic tests. Here are some of the common diagnostic tests used to diagnose this condition:

• Muscle Biopsy: A muscle biopsy is considered one of the most important diagnostic tests for hyaline body myopathy. It involves taking a small sample of muscle tissue from the affected area, which is then examined under a microscope for characteristic features such as hyaline bodies.
• Electrodiagnostic Testing: Electrodiagnostic testing, including nerve conduction studies (NCS) and electromyography (EMG), can also be used to diagnose hyaline body myopathy. These tests measure the electrical activity of the muscles and nerves, which can help identify abnormalities associated with this condition.
• Blood Tests: Blood tests may also be ordered to rule out other conditions that may cause similar symptoms. However, they are not typically used as a primary diagnostic tool for hyaline body myopathy.

Diagnostic Teams

A diagnostic team for hyaline body myopathy may include:

• A neurologist or muscle specialist who has experience in diagnosing and treating congenital myopathies
• A genetic counselor to discuss the possibility of inherited transmission and provide guidance on genetic testing
• A radiologist who can interpret imaging studies such as MRI or ultrasound to rule out other conditions that may cause similar symptoms

Imaging Services

Imaging services such as MRI scans, CT scans, X-rays, ultrasounds, and screening mammograms are also available for diagnostic purposes. However, these tests are not typically used as a primary diagnostic tool for hyaline body myopathy.

References:

• [8] Hyaline body myopathy most likely represents a distinct congenital myopathy because of its childhoot-onset, non-progressive course, and distinct morphological features.
• [5] Muscle biopsy is considered one of the most important diagnostic tests for hyaline body myopathy.
• [15] Electrodiagnostic testing is the core diagnostic modality for patients with a suspected myopathy; it comprises nerve conduction studies (NCS) and electromyography (EMG).
• [13] Clinical resource with information about Hyaline body myopathy and its clinical features, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews.

Treatment Options for Hyaline Body Myopathy

Hyaline body myopathy, also known as myosin storage myopathy, is a rare inherited condition affecting muscles. While there is no cure for this condition, various treatment options can help manage its symptoms and slow down disease progression.

• Physical Therapy: Regular physical therapy sessions can help maintain muscle strength and mobility.
• Medications: There are several medications that may be prescribed to alleviate symptoms of hyaline body myopathy:
  • Salbutamol: This medication has been shown to reduce weakness in patients with this condition [5].
  • Other medications: In some cases, other medications such as corticosteroids or immunosuppressants may be used to manage symptoms and slow down disease progression.
• Pain Management: Pain management is an essential aspect of treating hyaline body myopathy. Medications such as acetaminophen or ibuprofen can help alleviate muscle pain and discomfort.

Important Consideration

It's essential to note that each patient with hyaline body myopathy may respond differently to treatment, and what works for one person may not work for another. Therefore, a personalized treatment plan should be developed in consultation with a healthcare professional.

References

• [5] Treatment with the drug salbutamol has been shown to reduce weakness ... Hyaline body myopathy is a disorder characterized by the specific appearance ...
• [12] Hyaline body myopathy, also known as myosin storage myopathy, is an inherited condition affecting muscles. Symptoms typically appear in childhood but can manifest later.
• [15] Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance.