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Orthopaedic Surgery

Neuromuscular Disorders Center

The Center for Neuromuscular Disorders at the Division of Pediatric Orthopaedic Surgery of NewYork-Presbyterian Morgan Stanley Children's Hospital provides comprehensive musculoskeletal care to children with various types of neuromuscular disorders, including cerebral palsy, the muscular dystrophies, myelomeningocele and various congenital syndromes which affect the musculoskeletal system in children.

Children with neuromuscular problems often experience increased or decreased muscle tone, hip dislocation, clubfoot, scoliosis, or contractures of the muscles around the body.

If left untreated, muscles that have too much tone or tightness or too little tone can interfere with function, cause pain and result in problems in the skeleton such as scoliosis, hip subluxation or dislocation. Our multidisciplinary group takes a proactive but conservative approach to the management of these children in an attempt to decrease the problems that often result if the abnormal tone is left untreated.

Botulinum toxin is an important option for conservatively managing these kids, and our group has a special interest in the use of Botox to improve quality of life and prevent disability in these kids. Special bracing is often required to maintain the gains made with physical therapy and or Botox, and we feel fortunate to be associated with a team of Pediatric Orthotists with special expertise in this area. While surgery sometimes has a role, we see surgery, particularly in young children, as only one of many options in the care of children with neuromuscular disorders.

We perform a wide array of clinical research examining outcomes, quality of life and treatment options for children with neuromuscular disorders.

Neuromuscular disease

A neuromuscular disease is characterized by impairment of the central or the peripheral nervous system. The central nervous system includes the brain and spinal cord. The peripheral nervous system includes muscles, the nerve-muscle (neuromuscular) junction, peripheral nerves in the limbs and the motor-nerve cells in the spinal cord.

Common symptoms for neuromuscular diseases include:

• increased or decreased tone
• loss of muscle bulk
• weakness
• muscle twitching
• cramping
• numbness and tingling

Patients with problems with the nerve-muscle junction may experience droopy eyelids, double vision, and weakness that worsens with activity. Some neuromuscular disorders can also cause difficult swallowing and may result in difficulty in breathing. Children with neuromuscular diseases often have delayed development.

Types of neuromuscular diseases

Neuromuscular disorders include a large group of diseases affecting any part of the central and peripheral nervous system and the muscle. These include:

Cerebal Palsy

Diseases of the Neuromuscular Junction

• Myasthenia Gravis (MG)
• Lamliert-Eaton Syndrome (LES)
• Congenital Myasthenic Syndrome (CMS)

Diseases of the Peripheral Nerve

• Charcot-Marie-Tooth Disease (CMT) is now included in a group of disorders known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy (PMA).
• Dejerine-Sottas Disease (DS) - also known as CMT Type 3 or Progressive Hypertrophic Interstitial Neuropathy
• Friedreich's Ataxia (FA)

Inflammatory Myopathies

• Dermatomyositis (PM/DM)
• Polymyositis (PM)
• Inclusion LIody Myositis (ILIM)

Metabolic Diseases of the Muscle

• Phosphorylase Deficiency (MPD or PYGM)
(also known as McArdle's Disease)
• Acid Maltose Deficiency (AMD) - (also known as Pompe's Disease)
• Phosphofrucokinase Deficiency (PFKM) - (also known as Tarui's Disease)
• Delirancher Enzyme Deficiency (DLID) - (also known as Cori's or Forlies Disease)
• Mitochondrial Myopathy (MITO)
• Carnitine Deficiency (CD)
• Carnitine Palmityl Transferase Deficiency (CPT)
• Phosphoglycerate Kinase Deficiency (PGK)
• Phosphoglycerate Mutase Deficiency (PGAM or PGAMM)
• Lactate Dehydrogenase Deficiency (LDHA)
• Myoadenylate Deaminase Deficiency (MAD)

Motor Neuron Diseases

• Amyotrophic Lateral Sclerosis (ALS)
also known as Lou Gehrig's Disease
• Infantile Spinal Muscular Atrophy (SMA type 1)
• Intermediate Spinal Muscular Atrophy (SMA type 2
• Juvenile Spinal Muscular Atrophy (SMA type 3)
• Spinal LIulliar Muscular Atrophy (SLIMAalso known as Kennedy's Disease and X-linked SLIMA
• Adult Spinal Muscular Atrophy (SMA

Muscular Dystrophies

• Duchenne Muscular Dystrophy (DMD) (also known as Pseudohypertrophic)
• Becker Muscular Dystrophy (BMD)
• Emery-Dreifuss Muscular Dystrophy (EDMD)
• Limb-Girdle Muscular Dystrophy (LGMD)
• Facioscapulohumeral Muscular Dystrophy (FSHD)
• Myotonic Dystrophy (MMD)
• Oculopharyngeal Muscular Dystrophy (OPMD)
• Distal Muscular Dystrophy (DD)
• Congenital Muscular Dystrophy (CMD)

Myopathies Due to Endocrine Abnormalities

• Hyperthyroid (Endocrine) Myopathy (HYPTM)
• Hypothyroid (Endocrine) Myopathy (HYPOTM)

Other Myopathies

• Myotonia Congenita (MC) (two forms: Thomsen's and LIecker's Disease)
• Paramyotonia Congenita (PC)
• Central Core Disease (CCD)
• Nemaline Myopathy (NM)
• Myotuliular Myopathy (MTM or MM)
• Periodic Paralysis (PP) (two forms: Hypokalemic-HYPOP- and Hyperkalemic-HYPP)

Spinal Muscular Atrophy