INTRODUCTION Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystrophy, stem cell therapy still remains experimental. CASE PRESENTATION ...

BACKGROUND In 1991, the first world survey of neuromuscular disorders (NMDs) was published in the peer reviewed literature. Since then, diagnostics have been greatly improved through genetic confirmation and consensus on criteria. This prompted us to search the scientific literature since 1990 for the epidemiology of NMDs. OBJECTIVES To study occurrence rates, gender and age distribution. M...

facioscapulohumeral muscular dystrophy (fshd) is a common inherited muscular dystrophy presented clinically with slowly progressive weakness and wasting of facial and limb muscles and rare bulbar muscle involvement. we present herein a 70-year-old man who was a known case of fshd with complaint of 15-day history of progressive difficulty in chewing and dysarthria and was found to have myastheni...

AIM Facioscapulohumeral muscular dystrophy (FSHD) is an autosomally inherited neuromuscular disorder and may be associated with increased cancer risk. PATIENT A 69-year old female admitted to hospital with complaint of left axillary mass who had diagnosis of FSHD in her adulthood period. RESULTS Bilateral breast cancer diagnosis was made and the patient underwent bilateral mastectomy. Follo...

abstract bachground: the main objective of this study was to define the clinical changes of facial deformity in patients older than 5 years with congenital torticollis treated by proximal and distal sternocleidomastoid tenotomy. methods: we retrospectively evaluated fifteen patients who had had an open tenotomy of the sternal and clavicular and mastoid origins of the sternocleidomastoid muscle ...

Alpha-dystroglycanopathies are a clinically and genetically heterogenous group of muscular dystrophies characterized by the reduced or absent glycosylation of alpha-dystroglycan (Muntoni et al., 2002). The hypoglycosylation of alpha-dystroglycan leads to decreased binding of its ligands, including laminin, agrin and perlecan in skeletal muscle and neurexin in the brain. The only known target fo...

Alpha-dystroglycanopathies are a clinically and genetically heterogenous group of muscular dystrophies characterized by the reduced or absent glycosylation of alpha-dystroglycan (Muntoni et al., 2002). The hypoglycosylation of alpha-dystroglycan leads to decreased binding of its ligands, including laminin, agrin and perlecan in skeletal muscle and neurexin in the brain. The only known target fo...

Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contracture...

BACKGROUND AND OBJECTIVES Walker-Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. Most of the syndromic ch...

In dystrophic mice, a model of merosin-deficient congenital muscular dystrophy, laminin-2 mutations produce peripheral nerve dysmyelination and render Schwann cells unable to sort bundles of axons. The laminin receptor and the mechanism through which dysmyelination and impaired sorting occur are unknown. We describe mice in which Schwann cell-specific disruption of beta1 integrin, a component o...