Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...

The spinal muscular atrophies are a group of disorders characterized by flaccid limb weakness. It is necessary to differentiate these from other causes and identify the SMA variants. In classical SMA, majority of the patients shows homozygous deletion of the telomeric SMN gene (SMN1) on chromosome 5q. The availability of DNA analysis has allowed proper genetic counseling and prenatal diagnosis ...

We present a case of a 7-month-old Filipino who manifested with generalized muscle atrophy and areflexia. She had weak gag reflex and tongue fasciculations. She eventually developed feeding difficulty and recurrent pneumonia. Laboratory work-up showed a slightly elevated serum creatinine kinase (CK) and myopathic changes on electromyography and nerve conduction velocity (EMGNCV) studies. Geneti...

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and one of the most common genetic causes of infant death. The loss or mutation of the SMN1 gene results in reduced SMN protein level leading to motor neuron death and progressive muscle atrophy. Although recent progress has been made in our understanding of the molecular mechanisms underlying the pathogenesis of ...

Zusammenfassung Im Dezember 2020 hat der Gemeinsame Bundesausschuss beschlossen, dass das Screening auf spinale Muskelatrophie (SMA) in allgemeine Neugeborenenscreening aufgenommen werden soll. Grundlage dieser Entscheidung war die Tatsache, inzwischen gezielte Behandlungsmöglichkeiten für Patienten mit SMA zur Verfügung stehen und Zeitpunkt, zu dem Behandlung begonnen wird, entscheidend den Er...

In the March 2021, CADTH Canadian Drug Expert Committee recommended that onasemnogene abeparvovec be reimbursed for treatment of pediatric patients with 5q spinal muscular atrophy (SMA) biallelic mutations in survival motor neuron 1 (SMN1) gene, if certain conditions were met. A request was received to develop clinical criteria could used identify SMA older than 180 days who are most likely ben...

abstract objective autosomal recessive spinal muscular atrophy (sma) is, after cystic fibrosis, the second most common fatal monogenic disorder and the second most common hereditary neuromuscular disease after duchenne dystrophy. the disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. depending on the clinical type (werdnig- ho...