congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
Also known as: L-CMD, LMNA congenital muscular dystrophy, LMNA-related congenital muscular dystrophy, congenital muscular dystrophy caused by mutation in LMNA, muscular dystrophy Congenital, LMNA-related, muscular dystrophy, congenital, MDCL, muscular dystrophy, congenital, LMNA-related.
Category: General
Symptoms associated with congenital muscular dystrophy due to LMNA mutation
The following symptoms have been associated with congenital muscular dystrophy due to LMNA mutation in medical literature. Not everyone experiences the same symptoms.
Axial muscle weakness
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)....
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Neck muscle weakness
Decreased strength of the neck musculature....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Upper limb muscle weakness
Weakness of the muscles of the arms....
Tests used to investigate congenital muscular dystrophy due to LMNA mutation
Healthcare providers may order these tests when evaluating congenital muscular dystrophy due to LMNA mutation. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with congenital muscular dystrophy due to LMNA mutation, which is why a clinical evaluation is important.
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Proximal spinal muscular atrophy
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Steinert myotonic dystrophy
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multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is congenital muscular dystrophy due to LMNA mutation?
congenital muscular dystrophy due to LMNA mutation is a health condition described in medical literature. Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.
What are the symptoms of congenital muscular dystrophy due to LMNA mutation?
congenital muscular dystrophy due to LMNA mutation is associated with 7 symptoms in the medical literature we index, including Axial muscle weakness, Distal muscle weakness, Failure to thrive, Neck muscle weakness, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness. Symptoms vary widely between individuals.
How is congenital muscular dystrophy due to LMNA mutation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital muscular dystrophy due to LMNA mutation include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have congenital muscular dystrophy due to LMNA mutation, please discuss your symptoms with a qualified healthcare provider.