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Bethlem myopathy
ICD-10 Codes
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Description
Bethlem myopathy is a form of muscular dystrophy that affects the muscles and joints, causing slowly progressing muscle weakness and joint stiffness (contractures) in various parts of the body.
Characteristics of Bethlem Myopathy:
- Muscle Weakness: People with Bethlem myopathy experience gradually worsening muscle weakness, particularly in the proximal muscles (those closest to the trunk of the body).
- Joint Stiffness (Contractures): Joint stiffness and contractures are common features of this condition, affecting the fingers, wrists, elbows, and ankles.
- Autosomal Dominant Inheritance: Bethlem myopathy is predominantly inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
- Childhood Onset: The symptoms of Bethlem myopathy typically become apparent during childhood or adolescence.
Other Key Features:
- Collagen VI-Related Myopathies: Bethlem myopathy falls under the category of collagen VI-related myopathies, a sub-type of congenital muscular dystrophies.
- Benign Nature: Despite its progressive nature, Bethlem myopathy is considered a benign condition, with most people living into adulthood and experiencing a relatively mild course of the disease.
References:
- [1] - Bethlem myopathy falls under the category of collagen VI-related myopathies, within a sub-type known as the 'collagen VI-related myopathies'.
- [2] - People with this condition experience slowly progressing muscle weakness and develop joint stiffness (contractures) in their fingers, wrists, elbows, and ankles ...
- [6] - Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy.
- [8] - Bethlem myopathy is a form of muscular dystrophy that causes joint stiffness and muscle weakness that gradually becomes worse over time.
Additional Characteristics
- autosomal dominant inheritance
- gradually worsening muscle weakness
- joint stiffness (contractures)
- childhood onset
- collagen VI-related myopathies
- benign nature
- muscle weakness in proximal muscles
- finger, wrist, elbow, and ankle contractures
Signs and Symptoms
Bethlem Myopathy: A Progressive Muscle Disorder
Bethlem myopathy is a rare genetic disorder characterized by progressive muscle weakness, joint stiffness (contractures), and other symptoms. The condition affects various parts of the body, including the muscles, joints, and skin.
Common Symptoms:
- Muscle Weakness: People with Bethlem myopathy experience slowly progressing muscle weakness, which can affect any part of the body [1][2].
- Joint Stiffness (Contractures): Contractures are a hallmark symptom of Bethlem myopathy, affecting joints such as fingers, wrists, elbows, and ankles [1][2][6].
- Low Muscle Tone (Hypotonia) and Stiff Neck: Infants with Bethlem myopathy may experience low muscle tone and stiff neck (torticollis), which can develop during infancy [4].
- Delayed Motor Milestones: Children with the condition may experience delayed motor milestones, such as walking or crawling [5].
Other Symptoms:
- Gowers's Sign: A characteristic sign of Bethlem myopathy is Gowers's sign, where patients exhibit a specific posture to help them stand up from a squatting position [6].
- Toe Walking: Some individuals with the condition may experience toe walking, which can be a result of muscle weakness and joint stiffness [6].
- Skin Abnormalities: Skin abnormalities, such as thickening or thinning of scars, are also associated with Bethlem myopathy [3].
Progression of Symptoms:
The symptoms of Bethlem myopathy tend to progress slowly over time. Muscle weakness and joint stiffness can become more pronounced, leading to restricted movement and mobility.
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6
Additional Symptoms
- Joint Stiffness (Contractures)
- Low Muscle Tone (Hypotonia) and Stiff Neck
- Delayed Motor Milestones
- Gowers's Sign
- Toe Walking
- Skin Abnormalities
- muscle weakness
Diagnostic Tests
Bethlem myopathy, a rare genetic disorder, can be diagnosed through various clinical and laboratory tests.
Clinical Diagnosis
- A diagnosis of Bethlem myopathy is established in a proband with characteristic clinical, muscle imaging, and muscle immunohistochemical features [2].
- Clinical tests, such as muscle MRI and/or muscle biopsy, may be performed to confirm the diagnosis [5].
Laboratory Tests
- Blood tests can measure the level of creatine kinase (CK) or other muscle proteins in the blood, which may be slightly elevated in people with Bethlem myopathy [4][9].
- Genetic testing can also confirm the diagnosis by searching for mutations in the COL6A1, COL6A2, and COL6A3 genes [6].
Other Diagnostic Methods
- Muscle biopsy with immunostaining of collagen type VI or skin biopsy may be necessary to confirm the diagnosis [5][7].
- Disorganization of the collagen network in fibroblasts is an indirect but critical clue to the diagnosis [7].
It's worth noting that a combination of clinical and laboratory tests, including genetic testing, can provide a definitive diagnosis of Bethlem myopathy.
References: [1] Not provided [2] Provided in context (result 2
Additional Diagnostic Tests
- Skin biopsy
- Muscle biopsy
- Muscle MRI
- Blood tests (creatine kinase)
- Genetic testing (COL6A1, COL6A2, and COL6A3 genes)
- Muscle biopsy with immunostaining of collagen type VI
Treatment
Current Status of Drug Treatment for Bethlem Myopathy
Unfortunately, there is no cure for Bethlem myopathy, a rare genetic disorder that affects the muscles and tendons. However, various treatments can help alleviate its symptoms and improve quality of life.
- No specific treatment: As of today, there isn't a specific drug treatment available for Bethlem myopathy [5].
- Symptom management: Treatments are based on symptoms present and aim to reduce them and improve quality of life [7].
- Careful pulmonary surveillance: Careful monitoring of the lungs can help improve the quality of life of affected individuals [9].
While there is no specific drug treatment, researchers have explored potential treatments in animal models. For example, a study found that treatment with cyclosporin A (CsA) rescued mitochondrial dysfunction and decreased apoptosis in Col6a1−/− mice [1][3]. However, these findings are not directly applicable to humans.
Current Research and Future Directions
Research is ongoing to better understand Bethlem myopathy and explore potential treatments. While there is no specific drug treatment available, careful management of symptoms and proactive care can improve the quality of life of affected individuals.
References:
[1] Oct 1, 2008 — Treatment of Col6a1−/− mice with cyclosporin A (CsA) rescued the mitochondrial dysfunction and decreased apoptosis. Similar mitochondrial defects were revealed in other studies [3].
[3] by L Merlini · 2008 · Cited by 73 — Treatment of Col6a1−/− mice with cyclosporin A (CsA) rescued the mitochondrial dysfunction and decreased apoptosis. Similar mitochondrial defects were revealed in other studies.
[5] As of today, there aren't drug treatments. Is possible to relieve the effects of the tendon contractures (only in some isolated cases) through elongating ...
[7] There is no specific treatment for Bethlem myopathy. Treatments are based on symptoms that are present and aims to reduce symptoms and improve quality of life.
[9] Currently, there is no curative treatment; however, careful pulmonary surveillance and proactive care improve the quality of life of affected individuals. Non-...
Recommended Medications
- No specific treatment
- Symptom management
- Careful pulmonary surveillance
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis in Bethlem Myopathy
Bethlem myopathy, a rare disease affecting the skeletal muscles and connective tissue, requires accurate diagnosis to ensure proper treatment. The differential diagnosis of Bethlem myopathy involves identifying other conditions that may present similar symptoms.
Conditions with Similar Symptoms
- Emery-Dreifuss Muscular Dystrophy (EDMD): This condition shares some clinical features with Bethlem myopathy, such as muscle weakness and contractures [3].
- Collagen VI-related disorders: These disorders, including Bethlem myopathy and Ullrich Congenital Muscular Dystrophy, can present similar symptoms like joint laxity and contractures [7].
Diagnostic Criteria
The diagnosis of Bethlem myopathy is suggested by the presence of proximal muscle weakness associated with variable contractures, and unusual skin features. CK levels may also be elevated in some cases [4]. Genetic testing for known pathological variants may be recommended to confirm the diagnosis [6].
Importance of Accurate Diagnosis
Accurate differential diagnosis is crucial in Bethlem myopathy to rule out other conditions that may require different treatment approaches. A thorough understanding of the diagnostic criteria and similar conditions can help healthcare professionals provide the best possible care for patients with this rare disease.
References:
[1] Context result 1 [3] Context result 3 [4] Context result 4 [6] Context result 6 [7] Context result 7
Additional Differential Diagnoses
- Collagen VI-related disorders
- Emery-Dreifuss muscular dystrophy
- Ullrich congenital muscular dystrophy
- autosomal dominant Emery-Dreifuss muscular dystrophy 2
- autosomal dominant Emery-Dreifuss muscular dystrophy 4
- autosomal dominant Emery-Dreifuss muscular dystrophy 5
- autosomal dominant Emery-Dreifuss muscular dystrophy 7
- obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
- congenital symmetric circumferential skin creases 2
- Ullrich congenital muscular dystrophy 1C
- Ullrich congenital muscular dystrophy 1A
- Ullrich congenital muscular dystrophy 2
Additional Information
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