spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
Also known as: Jankovic-Rivera syndrome, hereditary myoclonus-progressive distal muscular atrophy syndrome, Jankovic Rivera syndrome, SMAPME, hereditary myoclonus and progressive distal muscular atrophy, myoclonus hereditary progressive distal muscular atrophy, spinal muscular atrophy with progressive myoclonic epilepsy.
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.
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...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
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....
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
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.
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....
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
Tick-borne encephalitis
Tick-borne encephalitis is a medical condition that may be associated with various symptoms and signs....
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation i...
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 characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.
What are the symptoms of spinal muscular atrophy-progressive myoclonic epilepsy syndrome?
spinal muscular atrophy-progressive myoclonic epilepsy syndrome is associated with 8 symptoms in the medical literature we index, including Dysphagia, Facial palsy, Generalized myoclonic seizure, Generalized-onset seizure, Proximal 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.