Autosomal recessive distal nebulin myopathy
Autosomal recessive distal nebulin myopathy is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Autosomal recessive distal nebulin myopathy
The following symptoms have been associated with Autosomal recessive distal nebulin myopathy in medical literature. Not everyone experiences the same symptoms.
Exertional dyspnea
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Neck flexor weakness
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scale...
Progressive distal muscle weakness
Progressively reduced strength of the distal musculature....
Progressive proximal muscle weakness
Lack of strength of the proximal muscles that becomes progressively more severe....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Weakness of long finger extensor muscles
Information about Weakness of long finger extensor muscles....
Weakness of the intrinsic hand muscles
Information about Weakness of the intrinsic hand muscles....
Tests used to investigate Autosomal recessive distal nebulin myopathy
Healthcare providers may order these tests when evaluating Autosomal recessive distal nebulin myopathy. 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 Autosomal recessive distal nebulin myopathy, which is why a clinical evaluation is important.
Late-onset distal myopathy, Markesbery-Griggs type
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Postsynaptic congenital myasthenic syndrome
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Steinert myotonic dystrophy
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 Autosomal recessive distal nebulin myopathy?
Autosomal recessive distal nebulin myopathy is a health condition described in medical literature. Autosomal recessive distal nebulin myopathy is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Autosomal recessive distal nebulin myopathy?
Autosomal recessive distal nebulin myopathy is associated with 8 symptoms in the medical literature we index, including Exertional dyspnea, Foot dorsiflexor weakness, Neck flexor weakness, Progressive distal muscle weakness, Progressive proximal muscle weakness, Weakness of facial musculature. Symptoms vary widely between individuals.
How is Autosomal recessive distal nebulin myopathy diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Autosomal recessive distal nebulin myopathy 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 Autosomal recessive distal nebulin myopathy, please discuss your symptoms with a qualified healthcare provider.