National Registry for Egyptian Pediatric Neuromuscular Diseases

National Registry for Egyptian Pediatric Neuromuscular Diseases

Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.

Aims: An open-ended multi-center, national Egyptian study to collect and analyze data for children with Neuromuscular Diseases (NMD) inherited NMD (spinal muscular atrophy (SMA), Duchenne/Becker and congenital muscular dystrophies (DMD/BMD, CMD), congenital myopathies, and congenital myasthenic syndromes) and acquired NMD (neuropathies, myasthenia gravis and myositis).

Participants: Eligible infants and children with inherited and acquired neuromuscular diseases.

DESIGN: This study is a prospective cohort study.

Outcome measures: Motor development assessment, respiratory and cardiac examination.

Inclusion Criteria:

• Weakness, hypotonia.
• Nerve conduction study and electromyographic confirmation of lower motor neuron affection.

Exclusion Criteria:

• Chromosomal diseases.
• Malformations and deformations.