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Ullrich congenital muscular dystrophy 1B
Description
Ullrich Congenital Muscular Dystrophy 1B (UCMD1B): A Rare Form of Muscular Disorder
Ullrich congenital muscular dystrophy 1B (UCMD1B) is a rare and severe form of congenital muscular dystrophy, characterized by generalized muscle weakness and striking hypermobility of distal joints. This condition is often associated with contractures, joint laxity, and respiratory problems.
Key Features:
- Muscle Weakness: Generalized muscle weakness is a hallmark feature of UCMD1B, affecting both proximal and distal muscles.
- Hypermobility: Distal joints are typically hypermobile, leading to increased flexibility and mobility.
- Contractures: Variable contractures of the proximal joints can occur, limiting range of motion.
- Respiratory Problems: Respiratory issues are common in UCMD1B patients, requiring close monitoring and management.
Causes and Inheritance:
UCMD1B is an inherited condition caused by mutations in the genes responsible for muscular dystrophy. The exact genetic mechanisms underlying this condition are not fully understood, but it is believed to be a result of autosomal recessive inheritance.
Symptoms and Diagnosis:
The symptoms of UCMD1B can vary widely among affected individuals. Muscle weakness, joint hypermobility, and contractures are often present at birth or shortly thereafter. A comprehensive medical evaluation, including genetic testing, is essential for accurate diagnosis.
References:
- [3] Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes responsible for this condition.
- [4] UCMD is commonly associated with contractures, joint laxity, muscle weakness and respiratory problems, though cardiac issues are not associated with this type of muscular dystrophy.
- [5] A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints.
Additional Characteristics
- Contractures
- Muscle Weakness
- Respiratory Problems
- Ullrich Congenital Muscular Dystrophy 1B (UCMD1B)
- Hypermobility
Signs and Symptoms
Muscle Weakness and Progressive Decline
Ullrich congenital muscular dystrophy (UCMD) is characterized by severe muscle weakness that becomes apparent shortly after birth [1]. This condition leads to a progressive decline in muscle function, affecting various parts of the body.
Key Signs and Symptoms:
- Congenital Muscle Weakness: Affected individuals are born with significant muscle weakness, which worsens over time [2].
- Proximal Joint Contractures: Contractures develop in the proximal joints (shoulders, elbows, hips) due to muscle weakness and atrophy [3][4].
- Distal Joint Hyperlaxity: The distal joints (wrists, ankles) become hypermobile and lax due to weakened muscles [2][5].
- Progressive Respiratory Failure: As the disease progresses, individuals with UCMD experience respiratory failure, which can be life-threatening [3].
Additional Symptoms:
- Delayed Motor Milestones: Affected children may experience delays in achieving motor milestones such as sitting, crawling, or walking [6].
- Muscle Atrophy: Progressive muscle atrophy occurs due to the degeneration of muscle tissue.
- Contractures and Joint Deformities: Contractures and joint deformities develop as a result of muscle weakness and atrophy.
Age-Related Progression:
- Early Childhood: Symptoms become apparent shortly after birth, with significant muscle weakness and proximal joint contractures developing in early childhood [1].
- Adolescence to Adulthood: The disease progresses rapidly during adolescence and young adulthood, leading to severe disability and respiratory failure.
References:
[1] Feb 9, 2024 — It causes severe muscle weakness that shows up shortly after birth. There's no cure for Ullrich congenital muscular dystrophy or any other form ...
[2] A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints.
[3] Affected individuals are characterized by muscle weakness, proximal joint contracture, distal joint hyperlaxity, and progressive respiratory failure.
[4] Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. The main symptom is muscle weakness.
[5] CMDs are generally characterized by diminished muscle tone (hypotonia), which is sometimes referred to as “floppy baby”; progressive muscle weakness and ...
[6] Jun 10, 2019 — Delay in unaided sitting, crawling, or walking may indicate UCMD. Diagnosis. The signs and symptoms of UCMD often are similar to those of other ...
[7] UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints.
[8] Signs and symptoms · Muscle weakness · Difficulty walking (ambulation is typically lost by age 5–15 years) · Contractures Characteristically, bilateral ...
[9] Jul 19, 2022 — Individuals with Ullrich congenital muscular dystrophy develop contractures in their shoulders, elbows, hips, and knees, which further impair ...
Additional Symptoms
- Muscle Atrophy
- Delayed Motor Milestones
- Proximal Joint Contractures
- Distal Joint Hyperlaxity
- Progressive Respiratory Failure
- Contractures and Joint Deformities
- muscle weakness
Diagnostic Tests
Diagnostic Tests for Ullrich Congenital Muscular Dystrophy (UCMD) 1B
Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that affects the muscles. Diagnosing UCMD can be challenging, but several diagnostic tests can help confirm the condition.
Blood Tests: One of the initial tests for UCMD is a blood test to measure the level of creatine kinase (CK), a muscle protein. In patients with UCMD, the CK level may be either normal or elevated [2]. This test can help rule out other conditions that may cause muscle damage.
Genetic Testing: Genetic testing for COL6 mutations is considered the gold standard diagnostic test for UCMD [1]. This test can confirm whether a person has the genetic mutation associated with UCMD. Genetic testing can also determine if a dog is a carrier of Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type) [3].
Other Diagnostic Tests: In addition to blood tests and genetic testing, other diagnostic tools may be used to confirm the diagnosis of UCMD. These include:
- Nerve conduction study (EMG/NCV)
- Muscle biopsy
- Brain MRI
- Skin biopsy to check for collagen VI present in the skin [6]
Imaging Tests: Imaging tests such as magnetic resonance imaging (MRI) may provide insight into muscle involvement and help diagnose UCMD [9].
It's essential to consult with a healthcare professional or a veterinary expert, depending on the context of the diagnosis, to determine the best course of action for diagnostic testing.
References: [1] B Chakrabarty · 2017 · Cited by 5 [2] One of these tests is a blood test to measure the level of a muscle protein, called creatine kinase (CK). [3] Genetic testing of the COL6A3 gene will reliably determine whether a dog is a genetic Carrier of Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type, [4] Jul 3, 2019 — The most important diagnostic tools are CK level, nerve conduction study, and EMG with or without repetitive nerve stimulation, brain MRI, muscle biopsy, [6] Feb 9, 2024 — ... lab); Perform a skin biopsy to check for collagen VI present in the skin; Order blood tests to measure the muscle protein creatine kinase (CK) ... [7] by CG Bönnemann · 2014 · Cited by 362 — Note: The most important tools in the clinical differential diagnosis are: EMG/NCV to diagnose neurogenic involvement, muscle biopsy, and selective biochemical ... [8] How is congenital muscular dystrophy diagnosed? · Creatine kinase blood test: Damage to muscles causes them to release creatine kinase, so elevated levels may ... [9] Jun 10, 2019 — ... diagnosis. Imaging tests, such as magnetic resonance imaging, of the muscles may provide insight into muscle involvement and help diagnose UCMD.
Additional Diagnostic Tests
- Muscle biopsy
- Brain MRI
- Blood Tests: creatine kinase (CK)
- Genetic Testing: COL6 mutations
- NCV)
- Skin biopsy to check for collagen VI present in the skin
- Imaging Tests: magnetic resonance imaging (MRI)
Treatment
Treatment Options for Ullrich Congenital Muscular Dystrophy (UCMD) 1B
Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that affects muscle strength and mobility. While there is no cure for UCMD, various treatment options can help manage symptoms and improve quality of life.
Cyclosporine A Treatment
Research has shown that long-term treatment with Cyclosporine A (CsA) can be beneficial in improving limb function and reducing muscle weakness in patients with UCMD [1]. Studies have demonstrated that CsA treatment can lead to significant improvements in muscle strength, mobility, and overall functional ability [2].
Other Treatment Options
In addition to CsA treatment, other therapies may be recommended to manage symptoms and improve quality of life. These include:
- Physical and occupational therapy to provide recommendations for joint stretching, swimming, and aquatherapy
- Orthopedic treatment for correction of foot deformity, scoliosis, and other musculoskeletal issues [3]
- Aggressive supportive care to preserve muscle activity and prevent further deterioration [4]
Current Treatment Landscape
While there is no specific treatment available for UCMD 1B, a multidisciplinary approach that incorporates various therapies can help manage symptoms and improve quality of life. It's essential to work with a healthcare team to develop a personalized treatment plan tailored to individual needs.
References:
[1] Hicks D (2009) Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue [5]
[2] Merlini L (2011) Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients [6]
[3] Hicks D (2009) In addition to rescue by cyclosporine A and collagen VI, this cellular phenotype was also rescued by other extra-cellular matrix constituents (laminin and ...) [7]
[4] Angelin A (2007) This study represents an essential step toward a pharmacological therapy of Ullrich congenital muscular dystrophy with cyclosporin A and methylAla3ethylVal4... [8]
[5] Hicks D (2009) Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue
[6] Merlini L (2011) Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients
[7] Hicks D (2009) In addition to rescue by cyclosporine A and collagen VI, this cellular phenotype was also rescued by other extra-cellular matrix constituents (laminin and ...)
[8] Angelin A (2007) This study represents an essential step toward a pharmacological therapy of Ullrich congenital muscular dystrophy with cyclosporin A and methylAla3ethylVal4...
Recommended Medications
- Physical and occupational therapy
- Cyclosporine A treatment
- Orthopedic treatment
💊 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
The differential diagnosis for Ullrich congenital muscular dystrophy (UCMD) 1B involves considering other conditions that may present with similar symptoms. According to the provided context, some of these conditions include:
- Intermediate COL6-related dystrophy (COL6-RD): This condition is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD [1]. Individuals with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing, unlike those with UCMD 1B.
- Ehlers-Danlos/myopathy overlap syndrome: This condition may also be considered in the differential diagnosis for UCMD 1B [15].
- Bethlem muscular dystrophy: While individuals with Bethlem muscular dystrophy do not achieve independent ambulation past age 11 years, they typically have finger contractures, which are not a characteristic of UCMD 1B [2].
It's essential to note that the diagnosis of UCMD 1B is primarily based on clinical presentation and muscle biopsy findings. A thorough examination and medical history are necessary to rule out other conditions and confirm the diagnosis.
References: [1] Context result 4 [2] Context result 11
Additional Differential Diagnoses
- Intermediate COL6-related dystrophy (COL6-RD)
- Bethlem muscular dystrophy
- N syndrome
Additional Information
- owl#annotatedSource
- t345692
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060942
- core#notation
- DOID:0060942
- oboInOwl#hasDbXref
- MIM:620727
- rdf-schema#label
- Ullrich congenital muscular dystrophy 1B
- IAO_0000115
- An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22.
- rdf-schema#subClassOf
- t345214
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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