This report presents a new mutation in the first Japanese female infant with spinal muscular atrophy with respiratory distress type 1. She manifested the characteristic clinical features, including early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness. Muscle biopsy in the femoral muscle indicated massive neurogenic changes. Sural nerve biopsy disclosed a moderate reduction of myelinated fibers, predominantly reduced large fibers. She had a novel homozygous missense mutation 2685 C -->A, leading to a T879K substitution in the immunoglobulin mu-binding protein 2 gene. Both parents were heterozygous for this mutation.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2004.11.003DOI Listing

Publication Analysis

Top Keywords

spinal muscular
8
muscular atrophy
8
atrophy respiratory
8
respiratory distress
8
distress type
8
mutation
4
mutation ighmbp2
4
ighmbp2 gene
4
gene spinal
4
type report
4

Similar Publications

Favorable response to ketogenic diet therapy in a patient with -related epilepsy.

Epilepsy Behav Rep

March 2025

Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.

Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.

View Article and Find Full Text PDF

Effect of nusinersen on pulmonary function in children with spinal muscular atrophy in the plateau region: A pilot study.

Heliyon

January 2025

Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.

Background: The drug nusinersen is applied to improve motor function in patients with spinal muscle atrophy (SMA). However, research on the effects of this treatment on lung function is lacking.

Aim: To investigate the effect of nusinersen on lung function in children with SMA in the Plateau.

View Article and Find Full Text PDF

We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.

View Article and Find Full Text PDF

Background: The study aimed to describe a new Ommaya reservoir implantation method in late-onset SMA patients, assessing its safety and effectiveness under standard clinical conditions.

Methods: Prospective observational study. Lumbar intrathecal access was unfeasible due to significant scoliosis and prior spinal surgeries with instrumentation.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!