LAMA2 related congenital muscular dystrophy

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Diagnosis

Genetic testing White matter Polymicrogyria Lissencephaly Pachygyria

6 related topics

Symptoms and signs

Skeletal muscle Differential diagnosis Congenital muscular dystrophies LMNA-Related muscular dystrophy Epilepsy

5 related topics

Cause

Alpha2 chain of laminin-211 Sarcolemma Peripheral nervous system Phenotype

4 related topics

Treatment

Muscle cell

1 related topics

Key facts & relationships

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Causes: Pathogenic variants or mutations in the LAMA2 gene
Diagnostic method: Muscle biopsy · brain MRI · whole-body muscle MRI · genetic testing
Differential diagnosis: Congenital muscular dystrophyies and Congenital myopathies
Other names: Congenital muscular dystrophy type 1A (MDC1A) or Merosin-deficient congenital muscular dystrophy, Late-onset LAMA2 muscular dystrophy or limb girdle muscular dystrophy 23 (LGMDR…
Specialty: Neurology · Pediatrics · Genetics · Orthopedics
Symptoms: Developmental delay · muscle weakness · muscle floppiness · muscle and joint stiffness · spine deformity

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Overview

Symptoms and signs

Skeletal muscle
Differential diagnosis
Congenital muscular dystrophies
LMNA-Related muscular dystrophy LMNA-related congenital muscular dystrophy
Epilepsy

Cause

Alpha2 chain of laminin-211 Laminin subunit alpha-2
Sarcolemma
Peripheral nervous system
Phenotype

Diagnosis

Treatment

Muscle cell

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LAMA2 related congenital muscular dystrophy

Nodes25

Edges24

Triples29

Avg. degree1.92

Density0.08

Components1

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LAMA2 related congenital muscular dystrophy

Top relations

Symptoms · 8

LAMA2 related congenital muscular dystrophy → cardiomyopathy, Developmental delay, muscle and joint stiffness, muscle floppiness, muscle weakness, respiratory difficulties, seizures, spine deformity

Diagnostic method · 4

LAMA2 related congenital muscular dystrophy → brain MRI, genetic testing, Muscle biopsy, whole-body muscle MRI

Specialty · 4

LAMA2 related congenital muscular dystrophy → Genetics, Neurology, Orthopedics, Pediatrics

Treatment · 2

LAMA2 related congenital muscular dystrophy → No cure, Supportive treatment

Causes · 1

LAMA2 related congenital muscular dystrophy → Pathogenic variants or mutations in the LAMA2 gene

Differential diagnosis · 1

LAMA2 related congenital muscular dystrophy → Congenital muscular dystrophyies and Congenital myopathies

Other names · 1

LAMA2 related congenital muscular dystrophy → Congenital muscular dystrophy type 1A (MDC1A) or Merosin-deficient congenital muscular dystrophy, Late-onset LAMA2 muscular dystrophy or limb girdle muscular dystrophy 23 (LGMDR…

Usual onset · 1

LAMA2 related congenital muscular dystrophy → Early onset type 1A (MDC1A) or late-onset LAMA2 muscular dystrophy

Important terminology Word statistics

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Important terminology

muscle lama2-md muscular congenital dystrophy mdc1a clinical onset lama2 type mri 1a early respiratory late known disease dystrophies joint diagnosis

Entity relationships Subject–Predicate–Object triples

Subject	Predicate	Object	Confidence	Src
LAMA2 related congenital muscular dystrophy	Causes	Pathogenic variants or mutations in the LAMA2 gene	1.00	infobox
LAMA2 related congenital muscular dystrophy	Diagnostic method	Muscle biopsy	1.00	infobox
LAMA2 related congenital muscular dystrophy	Diagnostic method	brain MRI	1.00	infobox
LAMA2 related congenital muscular dystrophy	Diagnostic method	whole-body muscle MRI	1.00	infobox
LAMA2 related congenital muscular dystrophy	Diagnostic method	genetic testing	1.00	infobox
LAMA2 related congenital muscular dystrophy	Differential diagnosis	Congenital muscular dystrophyies and Congenital myopathies	1.00	infobox
LAMA2 related congenital muscular dystrophy	Other names	Congenital muscular dystrophy type 1A (MDC1A) or Merosin-deficient congenital muscular dystrophy, Late-onset LAMA2 muscular dystrophy or limb girdle muscular dystrophy 23 (LGMDR…	1.00	infobox
LAMA2 related congenital muscular dystrophy	Specialty	Neurology	1.00	infobox
LAMA2 related congenital muscular dystrophy	Specialty	Pediatrics	1.00	infobox
LAMA2 related congenital muscular dystrophy	Specialty	Genetics	1.00	infobox
LAMA2 related congenital muscular dystrophy	Specialty	Orthopedics	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	Developmental delay	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	muscle weakness	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	muscle floppiness	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	muscle and joint stiffness	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	spine deformity	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	cardiomyopathy	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	seizures	1.00	infobox
LAMA2 related congenital muscular dystrophy	Symptoms	respiratory difficulties	1.00	infobox
LAMA2 related congenital muscular dystrophy	Treatment	No cure	1.00	infobox
LAMA2 related congenital muscular dystrophy	Treatment	Supportive treatment	1.00	infobox
LAMA2 related congenital muscular dystrophy	Usual onset	Early onset type 1A (MDC1A) or late-onset LAMA2 muscular dystrophy	1.00	infobox

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