congenital myopathy 4A, autosomal dominant
congenital myopathy 4A, autosomal dominant is a medical condition that may be associated with various symptoms and signs.
Also known as: CAPM1, CFTD, CFTDM, NEM1, cap myopathy 1, fiber-type disproportion myopathy, congenital, myopathy, congenital, with fiber-type disproportion, nemaline myopathy 1.
Category: General
Symptoms associated with congenital myopathy 4A, autosomal dominant
The following symptoms have been associated with congenital myopathy 4A, autosomal dominant in medical literature. Not everyone experiences the same symptoms.
Bulbar palsy
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X...
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal 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....
Tests used to investigate congenital myopathy 4A, autosomal dominant
Healthcare providers may order these tests when evaluating congenital myopathy 4A, autosomal dominant. 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 myopathy 4A, autosomal dominant, which is why a clinical evaluation is important.
Brown-Vialetto-van Laere syndrome 1
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene....
Nemaline myopathy 3
Nemaline myopathy 3 is a medical condition that may be associated with various symptoms and signs....
Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptom...
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-o...
nemaline myopathy 2
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generali...
Frequently Asked Questions
What is congenital myopathy 4A, autosomal dominant?
congenital myopathy 4A, autosomal dominant is a health condition described in medical literature. congenital myopathy 4A, autosomal dominant is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of congenital myopathy 4A, autosomal dominant?
congenital myopathy 4A, autosomal dominant is associated with 7 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Facial palsy, Failure to thrive, Generalized muscle weakness, Proximal muscle weakness. Symptoms vary widely between individuals.
How is congenital myopathy 4A, autosomal dominant diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myopathy 4A, autosomal dominant 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 myopathy 4A, autosomal dominant, please discuss your symptoms with a qualified healthcare provider.