Distal myopathies
RSS feedData from a cohort of 219 patients with distal myopathy provide further details on the characteristics of these diseases
Spanish doctors have published the demographic, clinical, genetic and physiological data from the largest cohort of patients with distal myopathy. With 219 patients included, the prevalence of distal myopathy in the Spanish population (in the Valencia region) is estimated at 3.9 per 100,000. The patients often presented with distal or proximodistal motor weakness that appeared … [Read more]
A case report of 20 congenital titinopathies due to an exon variant of the single metatranscript
The TTN gene, which comprises 363 exons, is subject to numerous alternative splicing events. The exons excluded or partially included in the main isoforms of skeletal muscle (N2A isoform) or cardiac muscle (N2B isoform) are defined as ‘metatranscript-only exons’ (MTT-only exons) and are thought to be expressed only during foetal muscle development. A retrospective study … [Read more]
Late dysferlinopathy presenting as generalized permanent myalgia
The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up. Muscle biopsy revealed a marked decrease in … [Read more]
GNE myopathy and 6′-sialyllactose: mixed results
A South Korean team conducted a trial of 6′-sialyllactose (6SL) in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24 and 58 with an average disease duration of 8.6±5.1 years: seven participants received 3g/d of 6SL (low dose), seven others 6g/d (high dose) and six others placebo for three months … [Read more]
The p.D207V mutation is correlated with a less severe form of GNE myopathy
A retrospective Chinese study of 83 patients with GNE myopathy compared the evolution of 40 carriers of the p.D207V mutation in the gene in question with that of 43 carriers of another mutation: the age of onset of the disease was 27 years for the former versus 24 years for the latter; carriers of the … [Read more]
For once, a heterozygous variant of the TTN gene can lead to a dominant myopathy
The 14 members (eight affected and six healthy) of a family with autosomal dominant myopathy were examined in detail: the patients presented the same picture of skeletal muscle damage associated with cardiac damage; genetic analysis revealed a nonsense variant c.70051C>Tp.(Arg23351) in the TTN gene; RNA sequencing showed reduced expression of the mutated allele and Western … [Read more]
Characterisation of distal digenic myopathy linked to TIA1 and SQSTM1
The description of four new French cases of Welander-type distal myopathy and 20 cases from a review of the literature confirms the digenic nature of the disease: the p.Asn357Ser mutation in the TIA1 gene is associated with four different SQSTM1 variants. The disease is most often asymmetric and predominantly affects the foot lifters and finger … [Read more]
Cerebral abnormalities in dysferlinopathies?
Slovakian and Austrian clinicians report the case of a family in which dysferlin deficiency was identified at the same time as structural and functional cerebral anomalies: the non-consanguineous family included four individuals (two sisters and two brothers) with a predominantly distal muscle phenotype (Miyoshi type), two pathological variants of the DYSF gene were identified (c.4076T>C … [Read more]
Study of a Russian cohort adds to the phenotypic description of MATR3-linked distal myopathy
Matrin-3 deficiency can give rise to a form of amyotrophic lateral sclerosis (ALS) or distal myopathy with vocal cord paralysis (VCPDM). Russian clinicians report the clinical and biological data of six new patients from four unrelated families, even though these conditions remain exceedingly rare: two of these patients showed signs that initially led to the … [Read more]
Common in South India, GNE myopathy is associated with a founder effect
Clinicians in southern India, working with other international research teams, have compiled clinical, biological and genetic data from a very large cohort of adult patients previously diagnosed with GNE myopathy: 157 cases were included in this retrospective study, onset of symptoms averaged 26 years, with a delay in diagnosis of around six years, bilateral foot … [Read more]
