Abstract Details

Title Clinical and Mutational Characteristics of SMARD1 Patients in the Netherlands

Topic Child Neurology/Developmental Neurobiology

Presentation(s) P03 - (-)

Poster/Presentation
Number 014

Objective

Background BACKGROUND: Since discovery of the IGHMBP2 gene causing spinal muscular atrophy with respiratory distress type 1 (SMARD1) in 2001, over 100 patients have been reported. SMARD1 is an uncommon variant of infantile SMA type 1 and is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness and contractures leading to foot deformities as the most striking clinical symptoms. In our study population six novel mutations of the IGHMBP2 gene were found, including a gene deletion of exon 2.

Design/Methods DESIGN/METHODS: We present the Dutch cohort of SMARD1 patients containing 10 patients.

Results RESULTS: Core features including early rapid and life threatening respiratory distress, generalized hypotonia, distal more than proximal muscle weakness and foot deformities were found in the majority of our population. In accordance with literature, some of the patients showed a milder phenotype. In all 10 patients mutations of both IGHMBP2 gene alleles were found. Six of them were novel mutations, including a gene deletion of exon 2.

Conclusions CONCLUSIONS: In this Dutch cohort of SMARD1 patients the key features of the disease are seen; early respiratory failure and distal muscle weakness due to a severe axonal neuropathy. A genotype fenotype correlation could not be established. Most patients died before the age of one year.

Authors/Disclosures
Xenia L. Stalpers, MD, MSc PRESENTER	No disclosure on file
Aad Verrips, MD, PhD (Canisius-Wilhelmina Hospital)	No disclosure on file
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Nizar Souayah, MD, FAAN (NJMS)	Dr. Souayah has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Takeda. Dr. Souayah has received publishing royalties from a publication relating to health care.
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