The anatomy of muscle unit presents the perfect reflection for the classification of neuromuscular disorders (NMDs).

Congenital muscular dystrophies and neuromuscular disorders are characterized by a heterogeneity in clinical presentations

Although Muscle diseases are monogenetic disorders, inherited in an autosomal recessive (AR), dominant or X-linked pattern

In the early 90s, in the wake of the discovery of the dystrophin gene, many international research groups embarked on a lengthy and tedious gene hunt 

Over the past years magnetic resonance imaging (MRI) has become more widely used in patients with genetic muscle diseases because the extent and localisation of 

Myopathies in pediatrics require comprehensive assessment of the affected child. One of this is muscles signal changes and atrophic

Congenital muscular dystrophies associated with glycosylation defects often impact not only neuromuscular function 

The autosomal recessive Congenital Muscular Dystrophies associated with a merosin

deficiency, also known as type 1A muscular dystrophy (MDC1A)

LAMA2-related muscular dystrophy (LAMA2 MD or MDC1A) is the most frequent form of congenital muscular dystrophies. It is caused by mutations in LAMA2, the gene 

Congenital muscular dystrophies (CMD) are a genetically heterogeneous group of disorders of voluntary muscle presenting at birth or in early infancy

Cure CMD’s mission is to advance research for treatments and a cure for the Congenital Muscular Dystrophies. Cure CMD was founded in 2008 by three parents 

A number of networks have emerged in the field of neuromuscular disorders in the recent years. Not only at the regional/national/continental levels but more 

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disease, with an incidence of 1 per 3500–9000 male children

Infantile hypotonia is a common presenting symptom, there are various causes for neonatal hypotonia including systemic illness such as sepsis and congenital cardiac 

The child with severe hypotonia is a medically complex child who relies upon long term, intensive support from numerous health care providers. 

Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation is the common final pathway, 

Neurometabolic disorders comprise a diverse group of inherited metabolic diseases with a wide age of onset and phenotypic spectrum. Progressive neurological 

Muscle glycogenosis constitute a growing number of inborn errors of glycogen metabolism. Deficiencies of virtually all enzymes which intervene

Qatar Biobank (QBB), the first very large scale, long-term public biorepository in Qatar, is designed to build a powerful research infrastructure for future 

The Qatar Genome Programme (QGP) is a national project promoting the implementation of precision medicine in Qatar. The project is designed around on a 

Building the clinical and genetic databases for genetic muscle diseases in Qatar was of our PPM1 grant’s main goals. Through the QF-funded PPM1 grant, 267 subjects