Neurological Disorders: Congenital Myopathy

Introduction

Congenital Myopathy is a type of myopathy (muscle disease) that is congenital in nature (present at birth).

They are genetically mediated muscle disorders with autosomal dominant, recessive and x linked patterns of inheritance. Muscular dystrophies are also inherited muscle disorders but the dystrophies are more progressive in nature as well as their histopathology may show more extensive death (necrosis) of the muscle fibers.

But sometimes just clinically differentiating these two groups of muscle disorders is not easy.

Clinical Presentation

The following manifestations are usually seen (depending upon the subtype of these myopathies);

• Decreased fetal movements
• Generally present at early childhood, but some may present later
• Delayed motor milestones (baby slow to lift head, crawl, sit, stand etc)
• Muscle weakness and thinning (atrophy)
• Decreased deep tendon reflexes
• Mental & speech development are generally normal or nearly normal
• Characteristic facial appearance with certain subtypes, etc

Types

The following are the examples of some familiar congenital myopathies;

• Central-core-myopathy
• Nemaline-rod-myopathy
• Congenital-fiber-type disproportion
• Myotubular-myopathy
• Multicore-myopathy etc

Diagnosis

The following tests are generally required to clinch the diagnosis;

• Blood CPK
• Electromyography & Nerve conduction study (EMG/NCS)
• Muscle biopsy
• Genetic tests if available & feasible

Management

There are no curative treatments available as of now so the focus is on supportive and symptomatic interventions. This would also include physical, occupational therapies, corrective orthopedic surgeries and assistive devices etc.

Patients with central core disease are susceptible to an anesthesia related complication called as malignant hyperpyrexia so proper precautions are necessary when these patients require surgeries.

A pediatric and/or adut neurologist is commonly involved in the care of patients with congenital myopathies.



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