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Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [ 2 ]
Truncal ataxia affects the muscles closer to the body such as the trunk, shoulder girdle and hip girdle. It is involved in gait stability. [3] Truncal ataxia is different from appendicular ataxia. Appendicular ataxia affects the movements of the arms and legs. It is caused by lesions of the cerebellar hemispheres. [3]
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]
Cardiomyopathy is a group of primary diseases of the heart muscle. [1] Early on there may be few or no symptoms. [1] As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. [1] An irregular heart beat and fainting may occur. [1]
Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. [1] There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration , and alcoholic or nutritional cerebellar degeneration. [ 2 ]
It is a type of cardiomyopathy, a group of diseases that primarily affects the heart muscle. [3] The diagnosis may be supported by an electrocardiogram, chest X-ray, or echocardiogram. [9] In those with heart failure, treatment may include medications in the ACE inhibitor, beta blocker, and diuretic families. [9] A low salt diet may also be ...
Leading causes of death include renal disease, brain tumour, lymphangioleiomyomatosis of the lung, and status epilepticus or bronchopneumonia in those with severe intellectual disability. [37] Cardiac failure due to rhabdomyomas is a risk in the fetus or neonate but is rarely a problem subsequently.