Doctor insights on:
Who Discovered Spinocerebellar Ataxia
Ataxia means movements without coordination. People with ataxia have incoordination because the parts of the nervous system that control movement and balance are not working properly. Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. Ataxias may be hereditary ...Read more
Unclear question: SCA wasn't "discovered" any more than heart failure, epilepsy and schizophrenia were discovered. They've always been with us. SCA was first systematically DESCRIBED in the 19th century. It wasn't "misdiagnosed" as anything. The CAUSES of SCA have been discovered only recently. There are at least 50 different types of SCA. Are you asking about any one in particular? ...Read more
Archaic term and:
Not used in academic settings due to confused terminology. Was used to describe both hereditary and sporadic neurodegenerative ataxias, but now classify these based on genetic and molecular markers. Amongst these, friedreich's ataxia, ataxia telangiectasia, sca 1-7, mitochondrial.
Ataxia is incoordination of movement due to cerebellar dysfunction. ...Read more
Variety of causes...: The causes of spinocerebellar ataxia span several pages, but can be categorized as: hereditary, infectious, medication-related, alcohol-related, traumatic, vitamin deficiency related, etc. The start of an evaluation for ataxia includes a detailed neurological exam by a movement disorder specialist and a brain MRI to see whether the cerebellum is indeed shrinking. ...Read more
Generic comments: Spinocerebellar ataxias are hereditary conditions, which may have features of Multiple Sclerosis, Parkinson's disease, and even blend into pernicious anemia signs.. Other disorders can indeed be confused with SCA's. However, most neurologists can skillfully sort out characteristics, and provide definitive conclusive testing to arrive at correct diagnosis. ...Read more
Too many to answer: The spinocerebellar ataxias (sca) are inherited conditions with ataxia & other symptoms. I believe that nearly 60 different scas currently identified. The different scas involve different genes and have different symptoms. Some may look parkinsonian. Sca-17 has prominent dementia without knowing which sca, this question is impossible to answer. A local movement disorder neurologist can help you. ...Read more
Part of the problem:
There are different types of spino-cerebellar ataxia syndromes. Many of them have involvement of the autonomic nervous system producing problems with the normal function of many organs in the thorax, abdomen and pelvix, beside changes if the muscle tone and coordination. Genetic studies will determine the specific type.
Thanks ...Read more
Surely: Classic model is Freidrich's ataxia, associated with scoliosis, cardiomyopathy, retinitis pigments, hearing loss, and cataracts. Another disorder. Olivopontocerebellar ataxia might cause autonomic issues, such as orthostatic hypertension. So, yes, we do encounter systemic associations with many of these disorders. ...Read more
Usually not similar: Motor neuron disease and spinocerebellar ataxia (sca) are very different diseases. The former affects motor neurons that control voluntary muscle activity, while the latter are a group (nearly 60 different ones currently) of disease that are progressive, degenerative, and affect coordination. Sca-36 does have ataxia in combination with motor neuron disease, but this is the exception not the rule. ...Read more
Unfortunately no: Unfortunately, there is no cure for spinocerebellar ataxia. Rehabilitation programs help people maintain function as the disease progresses. ...Read more
What is the best treatment for spinocerebellar ataxia? Do we have some medicine available to slow or stop it's progress?
No cure, but: Many of the conditions can be analyzed via genetic profiles, and this may help future family planning. Treatment may help, and some meds, especially Buspirone can control some of the ataxia, but this is tough. Have found weighted bracelets over wrists and ankles benefit many. Also, contact nat institutes of health, as research studies may be available. ...Read moreSee 1 more doctor answer
Movement disorders: Neurologists sub-specializing in movement disorders will often take care of patients with spinocerebellar ataxia. ...Read more
Dx dysautonomia. Breathing difficulties. Does having both genes - Spinocerebellar ataxia type 1 (SCA1)ATXN1 rs697739 C CC +/+ mean something?
Peut-etre. .. non:
Dysautonomia is not normally associated with SCA. It is smart to treat the dysautonomia symptoms. Do you know to do this? If that is going well, then I have no advice.
What is the reason you had testing for the SCA1 genes? Do you have trouble walking, or does someone in your family have trouble walking? If may be helpful to know. For now though, this may have no significance. ...Read more
Progressive disorder: Genetic and familial conditions can lead to a progressive degeneration of the cerebellum and brainstem structures. There are many different types. Multiple sclerosis can also cause progressive balance problems that can mimic degenerative disease. Tumors can also mimic degenerative disease. A quality MRI and good neurological evaluation is necessary. ...Read more
Ataxia: The word ataxia means without coordination. People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected. Ataxia may affect the fingers, hands, arms, legs, body, speech, and eye movements. ...Read more
Complicated: Motor incoordination can affect any aspect of motion, gait, speech, etc. Yours is a complex question but basically there are many different types of hereditary ataxias, then there are other types that are related to injury, illness, or things like stroke/ms. Those are technically called secondary types. Visit www. Ataxia. Org. ...Read more
Complex: Ataxia is a sign of brainstem cerebellar dysfunction and is not a disease. It is caused by several problems, including strokes, multiple sclerosis, brain hemorrhages, metabolic disorders, etc. Some of the problems can be reversed like b-12 deficiency, or use of thiamine, but most still elude cure. ...Read more