Congenital or autoimmune myasthenic syndromes
RSS feedCAR-T cells to treat severe forms of Lambert-Eaton syndrome
German researchers report the case of a patient with Lambert-Eaton syndrome (or LEMS, a presynaptic disorder of the neuromuscular junction very often of paraneoplastic origin) who benefited from an innovative therapy: the patient had an idiopathic form of LEMS, autologous anti-CD19 CAR-T cells were administered, resulting in selective depletion of B lymphocytes, positive results were … [Read more]
Congenital myasthenic syndrome linked to CHRNE: forms of variable severity
A phenotypic study of a series of 91 Bulgarian Roma patients with congenital myasthenic syndrome linked to the homozygous c.1327delG mutation of the CHRNE gene, aged between one and 64 years, revealed three groups of differing severity: 44 patients, with an average age of 23.7 years, had a mild form; twenty-six others, with an average … [Read more]
3,4-diaminopyridine may improve VAMP1-related congenital myasthenic syndromes
In 2017, mutations in VAMP1 were implicated in a congenital presynaptic myasthenic syndrome. Since then, nine autosomal recessive cases with hypotonia, facial weakness, fatigability, bulbar involvement and delayed motor acquisition have been described. Five new cases were reported in May 2024. Their description confirms the severity of the bulbar and motor impairment; all had scoliosis … [Read more]
A probable Finnish founder effect in a form of congenital myasthenic syndrome
Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the DOK7 gene: all were homozygous carriers of a mutation in the DOK7 gene (c.1508dupC), this was accompanied by considerable variability in phenotypic expression, the authors distinguished between two groups, one … [Read more]
Successful use of CAR-T cells in simultaneous myasthenia gravis and Lambert-Eaton syndrome
A German team has reported the treatment with autologous anti-CD19 CAR-T cells of two women with both autoimmune myasthenia and Lambert-Eaton syndrome who had failed to respond to multiple immunotherapies. The two patients, who were wheelchair-dependent before the transplant, regained full mobility, enabling them to cycle and go hiking in the mountains, in particular, within … [Read more]
Lessons from the long-term follow-up of over 200 adults with congenital myasthenic syndrome in France
A retrospective study based on data from 235 adults collected by a total of 23 French expert centres, during a follow-up period averaging 34 years, shows all the diagnostic difficulties of congenital myasthenic syndromes, with :
- onset in adulthood in 12.3% of cases,
- an average delay before clinical diagnosis of 17.2 years and before genetic diagnosis of 22 years,
- an initial misdiagnosis in 58.7% of patients (congenital myopathy, seronegative autoimmune myasthenia, muscular dystrophy, etc.).
The results of this major study also highlight the importance of having a genetic diagnosis, as this has an influence on the phenotype and course, as well as on the risks of exacerbation, respiratory assistance and loss of walking ability. However, the majority of patients in the French cohort had a favourable long-term prognosis and were neither ventilated nor using a wheelchair at the time of their last consultation.
A large Iranian cohort of patients with COL-Q deficiency
Iranian clinicians report on a large cohort of 26 patients followed for an average of nine years and in whom the diagnosis of congenital myasthenic syndrome (CMS) with COLQ deficiency has been formally proven: the clinical, electrophysiological and molecular data of these patients were compiled, signs of onset usually consisted of ptosis, ophthalmoparesis and limb-girdle … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
PTPN11: the missing link between RASopathies and congenital myasthenic syndromes?
RASopathies are pathologies linked to genes in the RAS/MAPK pathway, including the gene encoding the PTPN11 protein (involved in half of Noonan syndromes). An international consortium of researchers has reported the observations of four children: all had mutations in the PTPN11 gene but had previously been investigated for suspected congenital myasthenic syndrome (CMS), the clinical … [Read more]
Two new cases of congenital myasthenic syndrome linked to the DPAGT1 gene
Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disease characterized by muscle weakness and fatigability. In LG-CMS patients linked to mutations in the DPAGT1 gene, a reduction in the localization of acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ) is observed, due to a glycosylation deficit resulting in a decrease in neuromuscular transmission characterized … [Read more]
