Prof. Dr. Burak TatlıÇocuk Nörolojisi ve Gelişim
For healthcare professionals. This section is intended for healthcare professionals. The plain-language version for families is the Family Guide.
For healthcare professionals

Childhood Neuromuscular Disorders — Clinical Reference

Prof. Dr. Burak Tatlı · Paediatric Neurology

A Scientific Guide for Healthcare Professionals

Usage Note
  • This section is intended for HEALTHCARE PROFESSIONALS; it is not patient or family information.
  • The content is educational and does not replace current guidelines or patient-specific clinical judgement.
  • Treatment approvals, indications and surveillance intervals are given as of October 2026; this field changes rapidly and current product information and national reimbursement status should be verified separately.
  • The plain-language version for families is the Childhood Neuromuscular Disorders guide in the Family Guides section.

Note to the Clinician

This clinical reference is the professional counterpart of the family guide of the same name. Within the same structure it provides deeper content on motor-unit localization, the diagnostic algorithm (creatine kinase, electrophysiology, genetic strategy, muscle biopsy and muscle MRI), the differential diagnosis of the disease groups, licensed treatments in spinal muscular atrophy and Duchenne muscular dystrophy, and multidisciplinary standards of care.

The text is intended as a rapid clinical reference for paediatric neurologists, paediatricians, family physicians and emergency physicians. Two points are emphasised: which investigation a given localization calls for, and in which conditions diagnostic delay translates directly into loss of function.

Some conditions in this group now have licensed disease-modifying treatments. For this reason the text gives separate attention to early diagnosis, newborn screening and the presymptomatic treatment decision.

Contents

This clinical reference is organized into motor-unit localization and the diagnostic workup, disease groups (neuropathy, neuromuscular junction, muscle), licensed treatments in spinal muscular atrophy and Duchenne muscular dystrophy, and multidisciplinary standards of care.

Part One

Orientation and Diagnosis

· 2 chapters

Motor-unit localization, urgent and diagnostic red flags, clinical assessment, creatine kinase, electrophysiology, genetic strategy, muscle biopsy, newborn screening and conditions that mimic neuromuscular disease.

Part Two

Disease Groups

· 3 chapters

Recognition, diagnostic steps and follow-up of inherited and acquired neuropathies, neuromuscular junction disorders and muscle disorders other than the dystrophinopathies.

Part Three

SMA and Duchenne: Disease-Modifying Treatments

· 2 chapters

SMN1/SMN2 genetics, licensed treatments in SMA and the presymptomatic treatment decision; diagnosis, corticosteroid management, mutation-specific treatments and stage-based care in the dystrophinopathies.

Part Four

Standards of Care and Common Questions

· 2 chapters

Respiratory, cardiac, orthopaedic, nutritional, bone health, rehabilitation and anaesthetic considerations; functional outcome measures, emergency presentation and answers to questions raised by clinicians.

Case consultation or referral

For evaluation and follow-up planning in diagnostically challenging neuromuscular disease, contact the practice in Şişli, İstanbul.

Contact

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