LAMA2 related congenital muscular dystrophy: Difference between revisions
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{{Infobox medical condition | |||
| name = LAMA2-related congenital muscular dystrophy | |||
| image = [[File:Diagrammatic_illustration_of_laminin-211_or_Laminin-alpha2_chain._The_alpha2_chain_is_shown_in_red.jpg]] | |||
| caption = Diagrammatic illustration of laminin-211 | |||
| synonyms = MDC1A, merosin-deficient congenital muscular dystrophy type 1A | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Muscle weakness]], [[hypotonia]], [[delayed motor development]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[LAMA2]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[muscle biopsy]] | |||
| differential = Other forms of [[congenital muscular dystrophy]] | |||
| treatment = Supportive care, [[physical therapy]], [[respiratory support]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
}} | |||
{{DISPLAYTITLE:LAMA2-related congenital muscular dystrophy}} | {{DISPLAYTITLE:LAMA2-related congenital muscular dystrophy}} | ||
'''LAMA2-related congenital muscular dystrophy''' (LAMA2-CMD) is a genetic disorder characterized by muscle weakness and wasting, typically presenting at birth or in early infancy. It is caused by mutations in the [[LAMA2]] gene, which encodes the [[laminin]] alpha-2 chain, a crucial component of the extracellular matrix in muscle tissue. | '''LAMA2-related congenital muscular dystrophy''' (LAMA2-CMD) is a genetic disorder characterized by muscle weakness and wasting, typically presenting at birth or in early infancy. It is caused by mutations in the [[LAMA2]] gene, which encodes the [[laminin]] alpha-2 chain, a crucial component of the extracellular matrix in muscle tissue. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The LAMA2 gene provides instructions for making the laminin alpha-2 chain, which is part of the laminin-211 complex. This complex is essential for the structural integrity and function of muscle fibers. Mutations in LAMA2 disrupt the formation of laminin-211, leading to muscle fiber instability and degeneration. | The LAMA2 gene provides instructions for making the laminin alpha-2 chain, which is part of the laminin-211 complex. This complex is essential for the structural integrity and function of muscle fibers. Mutations in LAMA2 disrupt the formation of laminin-211, leading to muscle fiber instability and degeneration. | ||
==Clinical Features== | ==Clinical Features== | ||
LAMA2-CMD is characterized by hypotonia (decreased muscle tone), muscle weakness, and delayed motor milestones. Affected individuals may also exhibit joint contractures, scoliosis, and respiratory difficulties. | LAMA2-CMD is characterized by hypotonia (decreased muscle tone), muscle weakness, and delayed motor milestones. Affected individuals may also exhibit joint contractures, scoliosis, and respiratory difficulties. | ||
===Neurological Involvement=== | ===Neurological Involvement=== | ||
Some patients with LAMA2-CMD may present with white matter abnormalities in the brain, detectable via [[magnetic resonance imaging]] (MRI). These abnormalities do not typically correlate with significant cognitive impairment. | Some patients with LAMA2-CMD may present with white matter abnormalities in the brain, detectable via [[magnetic resonance imaging]] (MRI). These abnormalities do not typically correlate with significant cognitive impairment. | ||
[[File:Brain_MRI_of_a_patient_with_late-onset_LAMA2-MD_showing_white_matter_abnormalities_(hyperintensities)_in_T2.jpg|Brain MRI of a patient with late-onset LAMA2-MD showing white matter abnormalities (hyperintensities) in T2.|left|thumb]] | |||
[[File:Brain_MRI_of_a_patient_with_late-onset_LAMA2-MD_showing_white_matter_abnormalities_(hyperintensities)_in_T2.jpg|Brain MRI of a patient with late-onset LAMA2-MD showing white matter abnormalities (hyperintensities) in T2.|thumb | |||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of LAMA2-CMD is based on clinical evaluation, muscle biopsy, and genetic testing. Muscle biopsy may reveal a deficiency of laminin alpha-2 in the muscle tissue. Genetic testing can confirm mutations in the LAMA2 gene. | Diagnosis of LAMA2-CMD is based on clinical evaluation, muscle biopsy, and genetic testing. Muscle biopsy may reveal a deficiency of laminin alpha-2 in the muscle tissue. Genetic testing can confirm mutations in the LAMA2 gene. | ||
==Management== | ==Management== | ||
There is currently no cure for LAMA2-CMD. Management focuses on supportive care, including physical therapy, orthopedic interventions, and respiratory support. Regular monitoring and multidisciplinary care are essential to address the various complications associated with the disorder. | There is currently no cure for LAMA2-CMD. Management focuses on supportive care, including physical therapy, orthopedic interventions, and respiratory support. Regular monitoring and multidisciplinary care are essential to address the various complications associated with the disorder. | ||
==Research and Animal Models== | ==Research and Animal Models== | ||
Research into LAMA2-CMD includes studies on animal models, such as mice, to better understand the disease mechanism and explore potential therapies. | Research into LAMA2-CMD includes studies on animal models, such as mice, to better understand the disease mechanism and explore potential therapies. | ||
[[File:Laminin-alpha2-congenital-muscular-dystrophy-Mouse-model.jpg|Laminin-alpha2 congenital muscular dystrophy Mouse model.|left|thumb]] | |||
[[File:Laminin-alpha2-congenital-muscular-dystrophy-Mouse-model.jpg|Laminin-alpha2 congenital muscular dystrophy Mouse model.|thumb | |||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with LAMA2-CMD varies depending on the severity of the condition. While some individuals may achieve independent ambulation, others may require lifelong assistance and adaptive devices. | The prognosis for individuals with LAMA2-CMD varies depending on the severity of the condition. While some individuals may achieve independent ambulation, others may require lifelong assistance and adaptive devices. | ||
[[File:Lama2-congenital-muscular-dystrophy-deformities.jpg|Lama2 congenital muscular dystrophy deformities.|left|thumb]] | |||
[[File:Lama2-congenital-muscular-dystrophy-deformities.jpg|Lama2 congenital muscular dystrophy deformities.|thumb | ==See also== | ||
== | |||
* [[Congenital muscular dystrophy]] | * [[Congenital muscular dystrophy]] | ||
* [[Laminin]] | * [[Laminin]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Muscular dystrophy]] | [[Category:Muscular dystrophy]] | ||
[[Category:Genetic disorders with OMIM but no gene]] | [[Category:Genetic disorders with OMIM but no gene]] | ||
Latest revision as of 00:53, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| LAMA2-related congenital muscular dystrophy | |
|---|---|
| |
| Synonyms | MDC1A, merosin-deficient congenital muscular dystrophy type 1A |
| Pronounce | N/A |
| Specialty | Neurology, Genetics |
| Symptoms | Muscle weakness, hypotonia, delayed motor development |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the LAMA2 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, muscle biopsy |
| Differential diagnosis | Other forms of congenital muscular dystrophy |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy, respiratory support |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | N/A |
LAMA2-related congenital muscular dystrophy (LAMA2-CMD) is a genetic disorder characterized by muscle weakness and wasting, typically presenting at birth or in early infancy. It is caused by mutations in the LAMA2 gene, which encodes the laminin alpha-2 chain, a crucial component of the extracellular matrix in muscle tissue.
Pathophysiology[edit]
The LAMA2 gene provides instructions for making the laminin alpha-2 chain, which is part of the laminin-211 complex. This complex is essential for the structural integrity and function of muscle fibers. Mutations in LAMA2 disrupt the formation of laminin-211, leading to muscle fiber instability and degeneration.
Clinical Features[edit]
LAMA2-CMD is characterized by hypotonia (decreased muscle tone), muscle weakness, and delayed motor milestones. Affected individuals may also exhibit joint contractures, scoliosis, and respiratory difficulties.
Neurological Involvement[edit]
Some patients with LAMA2-CMD may present with white matter abnormalities in the brain, detectable via magnetic resonance imaging (MRI). These abnormalities do not typically correlate with significant cognitive impairment.
_in_T2.jpg)
Diagnosis[edit]
Diagnosis of LAMA2-CMD is based on clinical evaluation, muscle biopsy, and genetic testing. Muscle biopsy may reveal a deficiency of laminin alpha-2 in the muscle tissue. Genetic testing can confirm mutations in the LAMA2 gene.
Management[edit]
There is currently no cure for LAMA2-CMD. Management focuses on supportive care, including physical therapy, orthopedic interventions, and respiratory support. Regular monitoring and multidisciplinary care are essential to address the various complications associated with the disorder.
Research and Animal Models[edit]
Research into LAMA2-CMD includes studies on animal models, such as mice, to better understand the disease mechanism and explore potential therapies.
Prognosis[edit]
The prognosis for individuals with LAMA2-CMD varies depending on the severity of the condition. While some individuals may achieve independent ambulation, others may require lifelong assistance and adaptive devices.
