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 type 7

Category: General

What is mitochondrial DNA depletion syndrome 7 (hepatocerebral type)?

mitochondrial DNA depletion syndrome 7 (hepatocerebral type) is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have mitochondrial DNA depletion syndrome 7 (hepatocerebral type), speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

DysphagiaExcessive daytime somnolenceHearing impairmentMigraineMuscle weaknessStatus epilepticusVomiting

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.