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Hip Dysplasia in Charcot-Marie-Tooth Disease: Insights From a Large Cohort of Children and Adolescents

Tan KA, Ryan MM, Kennedy RA, Carroll K, de Valle K, Kollias CM, et al.

J Peripher Nerv Syst, 2025 Mar;30(1):e70002.
PMID: 39887493 DOI: 10.1111/jns.70002

BACKGROUND AND AIMS: Despite the known association of hip dysplasia and Charcot Marie Tooth disease (CMT), evidence is limited regarding its exact prevalence. Available studies pre-date genetic confirmation of CMT subtypes and current hip reconstruction surgical options. This study examined the prevalence of hip dysplasia in CMT in a tertiary neuromuscular center.
METHODS: This was a retrospective study of children with CMT who had at least one pelvic radiograph between 2000 and 2020. Reimer's migration percentage, acetabular index and lateral center edge angle were used to identify hip dysplasia.
RESULTS: A total of 178 children were included with a median age of 6.4 (IQR 3.4-11.3) years at CMT diagnosis. First pelvic radiographs were performed at a median age of 8.0 (IQR 4.6-12.2) years and 64 (35.8%) had hip dysplasia, of which 20 normalized over time. Repeat radiographs were done in 96/178 children (53.9%), and six children with originally normal radiographs developed later radiographic hip dysplasia. At the time of last follow up, 50/178 children (28.1%) had hip dysplasia and 17/178 children (9.6%) required surgical intervention. The frequency of hip dysplasia in specific CMT subtypes was: 28/100 in CMT1A, 5/7 in Dejerine-Sottas disease, 3/10 in CMT2A, and 4/4 in TRPV4-related CMT.
INTERPRETATION: The prevalence of hip dysplasia in children with CMT in this cohort was estimated to be between 9.6% and 28.1%. Serial imaging is important to monitor outcomes into adulthood. Specific CMT subtypes were more likely to be associated with hip dysplasia.
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature

Li L, Menezes MP, Smith M, Forbes R, Züchner S, Burgess A, et al.

Neuromuscul Disord, 2024 Apr;37:29-35.
PMID: 38520993 DOI: 10.1016/j.nmd.2024.03.005

5q-associated spinal muscular atrophy (SMA) is the most common autosomal recessive neurological disease. Depletion in functional SMN protein leads to dysfunction and irreversible degeneration of the motor neurons. Over 95 % of individuals with SMA have homozygous exon 7 deletions in the SMN1 gene. Most of the remaining 4-5 % are compound heterozygous for deletion and a disease-associated sequence variant in the non-deleted allele. Individuals with SMA due to bi-allelic SMN1 sequence variants have rarely been reported. Data regarding their clinical phenotype, disease progression, outcome and treatment response are sparse. This study describes six individuals from three families, all with homozygous sequence variants in SMN1, and four of whom received treatment with disease-modifying therapies. We also describe the challenges faced during the diagnostic process and intrafamilial phenotypic variability observed between siblings.
Fulltext Diagnosis and management of Guillain-Barré syndrome in ten steps

Leonhard SE, Mandarakas MR, Gondim FAA, Bateman K, Ferreira MLB, Cornblath DR, et al.

Nat Rev Neurol, 2019 Nov;15(11):671-683.
PMID: 31541214 DOI: 10.1038/s41582-019-0250-9

Guillain-Barré syndrome (GBS) is a rare, but potentially fatal, immune-mediated disease of the peripheral nerves and nerve roots that is usually triggered by infections. The incidence of GBS can therefore increase during outbreaks of infectious diseases, as was seen during the Zika virus epidemics in 2013 in French Polynesia and 2015 in Latin America. Diagnosis and management of GBS can be complicated as its clinical presentation and disease course are heterogeneous, and no international clinical guidelines are currently available. To support clinicians, especially in the context of an outbreak, we have developed a globally applicable guideline for the diagnosis and management of GBS. The guideline is based on current literature and expert consensus, and has a ten-step structure to facilitate its use in clinical practice. We first provide an introduction to the diagnostic criteria, clinical variants and differential diagnoses of GBS. The ten steps then cover early recognition and diagnosis of GBS, admission to the intensive care unit, treatment indication and selection, monitoring and treatment of disease progression, prediction of clinical course and outcome, and management of complications and sequelae.
[Evidence based guidelines. Diagnosis and management of Guillain-Barré syndrome in ten steps]

Leonhard SE, Mandarakas MR, de Assis Aquino Gondim F, Bateman K, Brito Ferreira ML, Cornblath DR, et al.

Medicina (B Aires), 2021;81(5):817-836.
PMID: 34633957

Guillain-Barré syndrome (GBS) is a rare, but potentially fatal, immune-mediated disease of the peripheral nerves and nerve roots that is usually triggered by infections. The incidence of GBS can therefore increase during outbreaks of infectious diseases, as was seen during the Zika virus epidemics in 2013 in French Polynesia and in 2015 in Latin America. Diagnosis and management of GBS can be complicated as its clinical presentation and disease course are heterogeneous, and no international clinical guidelines are currently available. To support clinicians, especially in the context of an outbreak, we have developed a globally applicable guideline for the diagnosis and management of GBS. The guideline is based on current literature and expert consensus, and has a ten-step structure to facilitate its use in clinical practice. We first provide an introduction to the diagnostic criteria, clinical variants and differential diagnoses of GBS. The ten steps then cover early recognition and diagnosis of GBS, admission to the intensive care unit, treatment indication and selection, monitoring and treatment of disease progression, prediction of clinical course and outcome, and management of complications and sequelae.