Brain-shrinking disease, a curse for this family

BANGALORE: Nothing can be more alarming than this genetic disease where the brain shrinks. It is called Spinocerebellar ataxia, a neuro degenerative incurable disease.
And the dreaded disease has been haunting this Bangalore family for three generations now. While Mary (56) who is affected with cerebral ataxia has been bedridden for one decade, her 27-year-old son James too has begun to show symptoms of the disease.He has lost control over his speech and his mobility is also affected __ uncoordinated movements.
The family has already lost James's grandmother and maternal uncle to this rare disease.
James' sister Leena (33) had to recently quit her executive job at a Bangalore-based MNC to take care of her bedridden mother and look for medical aid for her brother.
"Just a year ago, he was a smart young man. Today, he is depressed __ that he too will be bedridden like our mother," Leena told TOI.
Mary, mother of three children, was an active woman. But slowly in her forties, she lost control over her speech, and became unsteady while walking __ she used to walk in a zig-zag manner. Holding walls for support, she managed for a few months. She has been bedridden for almost a decade.
Mary had seen her mother affected with this disease in her 60s and her brother dying of this disease, Now, she is worried about her niece __ her brother's 25-year-old daughter who is a mother of two __ showing the symptoms.
"I have seen my grandmother, mother, uncle suffer. I can't let my little brother suffer. I am keeping my fingers crossed and hoping for some assistance from medical fraternity to find cure for this disease," said Leena.
NO CURE
Says Nimhans director Dr D Nagaraj: There is no cure for cerebral ataxia. At present, patients are provided symptomatic treatment. It is a degenerative disease where the brain stem starts shrinking. There are several type of cerebral ataxia, but Spinocerebellar ataxia is an inherited neuro degenerative disease. One in 10,000 are affected with this incurable disease in India.
* Ataxia is a non-specific clinical manifestation implying dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. Ataxia symptoms can be temporary, permanent and progressive. It can be caused due to several factors, like trauma (usually to the head), excessive and/or prolonged exposure to alcohol or other toxins, vitamin deficiency (vitamin E), stroke, multiple sclerosis, spinal disorders, cerebral atrophy or other cerebellar dysfunctions.
* Hereditary disorders causing ataxia include autosomal dominant ones such as Spinocerebellar ataxia(SCA), episodic ataxia and autosomal recessive disorders such as Friedreich's ataxia.
* Cerebral ataxia means the patient is exhibiting ataxia symptoms as a result of a dysfunction of the cerebellum.
Symptoms
Lack of coordination and unsteadiness due to the brain's failure to regulate the body's posture and to regulate the strength and direction of movements, speech problems.
* Loss of reflexes, abnormal eye movements, involuntary movements and prolonged muscle contraction, resulting in twisted body motion, tremors and abnormal posture] or chorea/tremors and dementia and significant loss of intellectual abilities such a memory.
Those interested in providing medical guidance can call Lumini: 9901882323.
(names of the patients have been changed to protect their identities)