ATAXIA ESPINOCEREBELOSA PDF

La ataxia espinocerebelosa tipo 2 (SCA2) es una enfermedad genética con Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant. Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal characterized by progressive ataxia, motor system abnormalities, dysarthria. Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

For all other staxia, please send your remarks via contact us. Only comments written in English can be processed. Infantile-onset spinocerebellar ataxia IOSCA is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.

So far, 24 cases have been reported.

Orphanet: Ataxia espinocerebelosa tipo 7

IOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes between 9 and 18 months of age. Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibers in the sural nerve, appear later in the disease course.

Hypogonadism may occur in females. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening. YC causative mutation has been postulated to be a founder mutation.

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Twenty-one of the reported patients were homozygous for this mutation, and three were compound heterozygotes: The mutations lead to mtDNA depletion in the brain esppinocerebelosa the liver, but not in the muscle. The diagnosis is based on clinical and pathological findings.

Studies of sural nerve biopsies reveal an early and rapidly progressive axonal neuropathy. Neuroimaging studies revealing cerebellar atrophy and genetic testing for the c. Differential diagnoses include early-onset cerebellar ataxias with sensory axonal neuropathy and epileptic encephalopathy, mitochondrial disorders with axonal neuropathy such as Friedreich ataxiaprogressive external ophthalmoplegia PEOjuvenile- or adult-onset mitochondrial recessive ataxia syndrome MIRASand POLG -related disorders see theseterms.

Prenatal testing may be available for families in which the disease-causing mutations have already been identified.

eNeurobiología – Revista electrónica

IOSCA is inherited in an autosomal recessive manner. Genetic counseling is an important clinical tool for preventing new cases, especially for couples with an affected first child: IOSCA patients are often managed by a multidisciplinary team, involving a pediatrician, neurologist, psychiatrist, orthopedic surgeon, physical and occupational therapists, genetic counselor, and social worker. Treatment is symptomatic and may include: Patients ataxka wheelchair-bound by adolescence.

Early death is common due to severe seizures. The clinical course seems espinocereelosa be more rapid and severe with death during infancy in c. Other search option s Alphabetical list.

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Check this box if you wish to receive a copy of your message. Disease definition Infantile-onset spinocerebellar espinocerebelpsa IOSCA is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. Summary Epidemiology So far, 24 cases have been reported. Espinoceebelosa description IOSCA is characterized by very early ataxia, athetosis and reduced tendon reflexes between 9 and 18 months of age.

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Diagnostic methods The diagnosis espinoceerbelosa based on clinical and pathological findings. Differential diagnosis Differential diagnoses include early-onset cerebellar ataxias with sensory axonal neuropathy and epileptic encephalopathy, mitochondrial disorders with axonal neuropathy such as Friedreich ataxiaprogressive external ophthalmoplegia PEOjuvenile- or adult-onset mitochondrial recessive ataxia syndrome MIRASand POLG -related disorders see theseterms.

Antenatal diagnosis Prenatal testing may be available for families in espinocereebelosa the disease-causing mutations have already been identified. Management and treatment IOSCA patients are often managed by a multidisciplinary team, involving a pediatrician, neurologist, psychiatrist, orthopedic surgeon, physical and occupational therapists, genetic counselor, and social fspinocerebelosa.

Prognosis Prognosis is unfavorable. Detailed information Professionals Clinical genetics review English Additional information Further information on this disease Classification s 4 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 2.

Health care resources for this disease Expert centres Diagnostic tests 87 Patient organisations 74 Orphan drug s 2. Specialised Social Services Eurordis directory.

espinocereblosa The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.