What are the symptoms of Alpers disease?
Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).
How does Alpers disease affect the mitochondria?
Alpers’ syndrome is most often caused by a genetic mistake in a gene called POLG. This gene provides the instructions needed to make a protein called polymerase gamma, which is responsible for “reading” sequences of mitochondrial DNA (mtDNA) and using them as a template to produce more mtDNA within the mitochondria.
Who discovered Alpers disease?
Its cause remained a mystery for nearly 70 years after it was first described in 1931 by Bernard Alpers. Dr. Naviaux’s team at UCSD discovered the cause of this classical mitochondrial disease and developed the first DNA test to diagnose it.
How is Alpers disease caused?
It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers’ disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms.
How do people get Alpers disease?
What is Valtoco?
VALTOCO® (diazepam nasal spray) is a prescription medicine used for the short-term rescue treatment of seizure clusters (also known as “episodes of frequent seizure activity” or “acute repetitive seizures”) in adults and children 6 years of age and older.
How is Alport syndrome diagnosed?
Alport syndrome is diagnosed with a medical evaluation and family history, together with a kidney biopsy that can detect changes in the kidney typical of the condition. Urinalysis may reveal blood or protein in the urine. Blood tests can reveal a low platelet level. In addition, tests for the Alport gene are now available.
What are the types of mitochondrial diseases?
The list of types of Mitochondrial diseases mentioned in various sources includes: Leber’s hereditary optic atrophy. Kearns-Sayre Syndrome. Progressive external ophthalmoplegia. Myoclonus epilepsy. MELAS.
What are some examples of mitochondrial disorders?
Examples of mitochondrial diseases include: Mitochondrial myopathy. Diabetes mellitus and deafness (DAD) this combination at an early age can be due to mitochondrial disease. Diabetes mellitus and deafness can be found together for other reasons.
What is Albert syndrome?
(redirected from Albert Syndrome) Inflammation of the heel cord that is the extension from the triceps surae group of muscles characterised by pain and swelling along the tendon sheath proximal to the calcaneus .