mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Also known as: IOSCA, OHAHA syndrome, Ohaha syndrome, TWNK autosomal recessive degenerative and progressive cerebellar ataxia, autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK, mitochondrial DNA depletion syndrome 7 (hepatocerebral type), mitochondrial DNA depletion syndrome type 7, ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome, MTDPS7, SCA8 (formerly).
Category: General
Symptoms associated with mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
The following symptoms have been associated with mitochondrial DNA depletion syndrome 7 (hepatocerebral type) in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Excessive daytime somnolence
A state of abnormally strong desire for sleep during the daytime....
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Migraine
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated sympt...
Muscle weakness
Reduced strength of muscles....
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Healthcare providers may order these tests when evaluating mitochondrial DNA depletion syndrome 7 (hepatocerebral type). 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 mitochondrial DNA depletion syndrome 7 (hepatocerebral type), which is why a clinical evaluation is important.
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Tick-borne encephalitis
Tick-borne encephalitis is a medical condition that may be associated with various symptoms and signs....
cyclic vomiting syndrome
A rare functional disorder characterized by recurrent, stereotypical episodes of severe nausea and vomiting se...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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...
Frequently Asked Questions
What is mitochondrial DNA depletion syndrome 7 (hepatocerebral type)?
mitochondrial DNA depletion syndrome 7 (hepatocerebral type) is a health condition described in medical literature. Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
What are the symptoms of mitochondrial DNA depletion syndrome 7 (hepatocerebral type)?
mitochondrial DNA depletion syndrome 7 (hepatocerebral type) is associated with 7 symptoms in the medical literature we index, including Dysphagia, Excessive daytime somnolence, Hearing impairment, Migraine, Muscle weakness, Status epilepticus. Symptoms vary widely between individuals.
How is mitochondrial DNA depletion syndrome 7 (hepatocerebral type) diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 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 mitochondrial DNA depletion syndrome 7 (hepatocerebral type), please discuss your symptoms with a qualified healthcare provider.