ATROFIE MUSCOLARI SPINALI PDF

Atrofia muscolare spinale. Name: Muscular atrophy affecting the spinal cord. There are up to 30 different types of spinal muscular atrophy. The most frequent. Request PDF on ResearchGate | On Jan 1, , Monica Traverso and others published Le atrofie muscolari spinali. Our Services. Lorem ipsum dolor sit amet, consectetur adipisicing elit, sed do eiusmod tempor incididunt ut labore et dolore magna aliqua. Ut enim ad minim.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, atrrofie send your remarks via contact us. Only comments written in English can be processed. Proximal spinal muscular atrophy type 1 SMA1 is a severe infantile form of proximal spinal muscular atrophy see this term characterized by severe and progressive muscle weakness spjnali hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

The disease is slightly more frequent in males than in females. Disease onset occurs before 6 months of age usually before 3 months. The severe muscle weakness almost always symmetrical first affects proximal limbs and then progresses to the extremities hands and feet.

Atrofia muscolare – Wikipedia

Poor sucking ability and reduced swallowing are frequent, leading to feeding difficulties. Deep tendon reflexes are absent. Respiratory failure is common.

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Mild contractures of the knees and, more rarely, of the elbowsand scoliosis may be present. Patients are not able spinaali sit without support and will never be able to walk. Mmuscolari of the NAIP 5q The diagnosis is based on clinical history and examination and can be confirmed by genetic testing. Differential diagnoses include SMA2, congenital muscular dystrophies, congenital myopathies, some early-onset mitochondrial disorders, and carbohydrate metabolism disorders see these terms.

Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus samples. Genetic counseling should be offered to affected families.

Clinical trials are ongoing to identify potential drug treatments for SMA1, mainly targeted towards increasing the levels miscolari the full length SMN protein.

However, at present, management remains symptomatic, involving a multidisciplinary approach and aiming to improve quality of life. Respiratory support is necessary and physiotherapy is recommended.

Noninvasive ventilation and gastrostomy may be useful. Antibiotic therapy is required in case of pulmonary infection and chronic hunger must be prevented.

The prognosis is generally poor with most patients dying within the first two years of life due to respiratory failure.

However, in some cases, manifestations are stable or even regress, and patients may live longer. Other search option s Alphabetical list.

Atrofia muscolare

Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Proximal spinal muscular atrophy type 1 SMA1 is a severe infantile form of proximal spinal muscular atrophy see this term characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. InfancyNeonatal ICD Clinical description Disease onset occurs before 6 months of age usually before 3 months.

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Diagnostic methods The diagnosis is based on clinical history and examination and can be confirmed by genetic testing. Differential diagnosis Differential diagnoses include SMA2, congenital muscular dystrophies, congenital myopathies, some early-onset mitochondrial disorders, and carbohydrate metabolism disorders see these terms.

Atrofia muscolare spinale

Antenatal diagnosis Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villus samples. Management and treatment Clinical trials are ongoing spinall identify potential drug treatments for SMA1, mainly targeted towards increasing the levels of the full length SMN protein.

Prognosis The prognosis is generally poor with most patients dying within the first two years of life due to respiratory failure. Professionals Summary information Greekpdf Slovakpdf Polskipdf Anesthesia guidelines Englishpdf Review article English Guidance for genetic testing Englishpdf Clinical genetics review English Health care resources for this disease Expert musclari Diagnostic tests Patient organisations 63 Orphan drug s Specialised Social Services Eurordis directory.

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.