Myology research highlights

McArdle disease is a nonlysosomal glycogenosis that classically manifests with exercise-induced pain from childhood. Fixed weakness may occur from the fifth decade and is typically mild and located around the shoulder girdle. Here, the authors describe a 61-year-old man with exercise-induced pain from a young age and a 3-year history of weight loss and an … [Read more]

Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. There is a considerable overlap in the phenotype of MMND with Brown-Vialetto-Van … [Read more]

This study aimed to identify mutations in the inverted formin-2 (INF2) gene in patients with Charcot-Marie-Tooth (CMT) disease combined with focal segmental glomerulosclerosis (FSGS) in order to expand the genetic and phenotypic spectrum. INF2 was sequenced in 5 patients with CMT disease and FSGS. Mutations were subsequently screened in family members of the index patient … [Read more]

Charcot-Marie-Tooth (CMT) neuropathies represent a heterogeneous group of peripheral nerve disorders affecting 1 in 2500 persons. One variant, CMT1A, is a primary Schwann cell disorder, and represents the single most common variant. In previous studies the authors showed that neurotrophin-3 (NT-3) improved the tremblerJ (TrJ) mouse and also showed efficacy in CMT1A patients. Long-term treatment … [Read more]

Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. No congenital heart defect has been reported, and childhood-onset cardiomyopathy has been documented in only two CM families with homozygous mutations of the TTN gene. TTN encodes titin, a … [Read more]

In patients with myotonic dystrophy type 1 (DM1), the mechanisms underlying sudden cardiac death, which occurs in up to 1/3 of patients, are unclear. To study the potential role of Brugada syndrome in ventricular tachyarrhythmias and sudden death in DM1 patients, 914 adult patients included in the DM1 Heart Registry during 2000-2009 were screened for … [Read more]

Myotonic dystrophy is the most common adult muscle dystrophy. In view of emerging therapies, which use animal models as a proof of principle, the development of reliable outcome measures for in vivo longitudinal study of mouse skeletal muscle function is becoming crucial. To satisfy this need, the authors have developed a device to measure ankle … [Read more]

Duchenne muscular dystrophy (DMD) is one of the most common hereditary degenerative neuromuscular diseases, caused by mutations in the dystrophin gene. Two studies describing growth patterns and psychomotor development in DMD are presented. In the first retrospective study, the authors describe growth and psychomotor development of patients with DMD and to detect a possible genotype-phenotype … [Read more]

In this study, the features of nerve enlargement in inherited and acquired demyelinating neuropathies were compared using ultrasound. The authors measured median and ulnar nerve cross-sectional areas in proximal and distal regions in 128 children and adults with inherited [Charcot-Marie-Tooth-1 (CMT-1) (n = 35)] and acquired [chronic inflammatory demyelinating polyneuropathy (CIDP) (n = 55), Guillaine-Barre … [Read more]

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. While many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence < … [Read more]