sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
Also known as: EPM5, PME type 5, PRICKLE2 progressive myoclonic epilepsy, SANDO, epilepsy, progressive myoclonic, type 5, mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), progressive myoclonic epilepsy caused by mutation in PRICKLE2, progressive myoclonus epilepsy type 5, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, epilepsy, progressive myoclonic, 5.
Category: General
Symptoms associated with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
The following symptoms have been associated with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis in medical literature. Not everyone experiences the same symptoms.
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
External ophthalmoplegia
Paralysis of the external ocular muscles....
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Hypoesthesia
Decreased ability to perceive touch....
Migraine
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated sympt...
Muscle fibrillation
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascer...
Muscle weakness
Reduced strength of muscles....
Ophthalmoparesis
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
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....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Weight loss
Reduction of total body weight....
Tests used to investigate sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Healthcare providers may order these tests when evaluating sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. 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 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, which is why a clinical evaluation is important.
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
mitochondrial dna depletion syndrome 21
mitochondrial dna depletion syndrome 21 is a medical condition that may be associated with various symptoms an...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
Frequently Asked Questions
What is sensory ataxic neuropathy, dysarthria, and ophthalmoparesis?
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis is a health condition described in medical literature. A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.
What are the symptoms of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis?
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis is associated with 16 symptoms in the medical literature we index, including Depression, Distal muscle weakness, Dysphagia, External ophthalmoplegia, Generalized muscle weakness, Hypoesthesia. Symptoms vary widely between individuals.
How is sensory ataxic neuropathy, dysarthria, and ophthalmoparesis diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 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 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, please discuss your symptoms with a qualified healthcare provider.