nemaline myopathy 2
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
Also known as: NEB nemaline myopathy, NEM2, nemaline myopathy 2, nemaline myopathy caused by mutation in NEB, nemaline myopathy type 2.
Category: General
Symptoms associated with nemaline myopathy 2
The following symptoms have been associated with nemaline myopathy 2 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....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Neck flexor weakness
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scale...
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....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate nemaline myopathy 2
Healthcare providers may order these tests when evaluating nemaline myopathy 2. 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 nemaline myopathy 2, which is why a clinical evaluation is important.
Congenital fiber-type disproportion myopathy
Congenital fiber-type disproportion myopathy is a medical condition that may be associated with various sympto...
Nemaline myopathy 3
Nemaline myopathy 3 is a medical condition that may be associated with various symptoms and signs....
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
congenital myopathy 10b, mild variant
congenital myopathy 10b, mild variant is a medical condition that may be associated with various symptoms and ...
myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-o...
Frequently Asked Questions
What is nemaline myopathy 2?
nemaline myopathy 2 is a health condition described in medical literature. An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
What are the symptoms of nemaline myopathy 2?
nemaline myopathy 2 is associated with 9 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Foot dorsiflexor weakness, Generalized muscle weakness, Limb muscle weakness, Neck flexor weakness. Symptoms vary widely between individuals.
How is nemaline myopathy 2 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with nemaline myopathy 2 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 nemaline myopathy 2, please discuss your symptoms with a qualified healthcare provider.