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 characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.
Category: General
Symptoms associated with multiple mitochondrial dysfunctions syndrome 9b
The following symptoms have been associated with multiple mitochondrial dysfunctions syndrome 9b in medical literature. Not everyone experiences the same symptoms.
Abdominal pain
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perc...
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Asthenia
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the b...
Axial muscle weakness
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)....
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Blurred vision
Lack of sharpness of vision resulting in the inability to see fine detail....
Constipation
Infrequent or difficult evacuation of feces....
Cough
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation....
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Distal lower limb muscle weakness
Reduced strength of the distal musculature of the legs....
Drowsiness
Abnormal feeling of sleepiness or difficulty staying awake....
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Fatigue
A subjective feeling of tiredness characterized by a lack of energy and motivation....
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Hypoventilation
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (...
Increased body weight
Abnormally increased body weight....
Insomnia
Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adeq...
Lower limb muscle weakness
Weakness of the muscles of the legs....
Mildly reduced visual acuity
Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/...
Moderately reduced visual acuity
Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less...
Muscle weakness
Reduced strength of muscles....
Pain
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described...
Proximal muscle weakness
A lack of strength of the proximal muscles....
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....
Severely reduced visual acuity
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less tha...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Vertigo
An abnormal sensation of spinning while the body is actually stationary....
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Wheezing
A high-pitched whistling sound associated with labored breathing....
Tests used to investigate multiple mitochondrial dysfunctions syndrome 9b
Healthcare providers may order these tests when evaluating multiple mitochondrial dysfunctions syndrome 9b. 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 multiple mitochondrial dysfunctions syndrome 9b, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is multiple mitochondrial dysfunctions syndrome 9b?
multiple mitochondrial dysfunctions syndrome 9b is a health condition described in medical literature. A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures.
What are the symptoms of multiple mitochondrial dysfunctions syndrome 9b?
multiple mitochondrial dysfunctions syndrome 9b is associated with 35 symptoms in the medical literature we index, including Abdominal pain, Anxiety, Asthenia, Axial muscle weakness, Blindness, Blurred vision. Symptoms vary widely between individuals.
How is multiple mitochondrial dysfunctions syndrome 9b diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with multiple mitochondrial dysfunctions syndrome 9b 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 multiple mitochondrial dysfunctions syndrome 9b, please discuss your symptoms with a qualified healthcare provider.