Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
The following symptoms have been associated with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome in medical literature. Not everyone experiences the same symptoms.
Atonic seizure
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without ...
Dysphagia
Difficulty in swallowing....
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Lower limb muscle weakness
Weakness of the muscles of the legs....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Typical absence seizure
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden ons...
Tests used to investigate Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Healthcare providers may order these tests when evaluating Spinal muscular atrophy-progressive myoclonic epilepsy syndrome. 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 ...
Conditions with overlapping symptoms
These conditions share symptoms with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, which is why a clinical evaluation is important.
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Morimoto-Ryu-Malicdan neuromuscular syndrome
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Tay-Sachs disease
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intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech is a medical cond...
Frequently Asked Questions
What is Spinal muscular atrophy-progressive myoclonic epilepsy syndrome?
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a health condition described in medical literature. Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Spinal muscular atrophy-progressive myoclonic epilepsy syndrome?
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is associated with 10 symptoms in the medical literature we index, including Atonic seizure, Dysphagia, Generalised tonic-clonic seizure without focal onset, Generalized myoclonic seizure, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness. Symptoms vary widely between individuals.
How is Spinal muscular atrophy-progressive myoclonic epilepsy syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Spinal muscular atrophy-progressive myoclonic epilepsy syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP). 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 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, please discuss your symptoms with a qualified healthcare provider.