Conditions treated at the Dubowitz Neuroluscular Centre

The Dubowitz Neuromuscular Centre (DNC) treats a wide range of neuromuscular disorders in children. These include:

Spinal muscular atrophy (SMA) are a group of inherited diseases that cause progressive muscle degeneration and weakness. Grouped together, spinal muscular atrophy conditions are the second leading cause of neuromuscular disease. Approximately four out of every 100,000 people have the condition, and most of the time, it is passed on by a defective gene from both parents.

The muscular dystrophies are a group of inherited disorders that involve muscle weakness and loss of muscle tissue, many of which worsen over time.

Muscular dystrophies are inherited conditions, which means they are passed down through families. They may occur in childhood or adulthood. There are many different types of muscular dystrophy. They include Duchenne and Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy and myotonic dystrophy.

• Muscular Dystrophy Campaign
• Givinostat Expanded Access Programme

Congenital myopathy refers to a group of muscle disorders which are present from birth or in infancy, and which usually result in muscle weakness. Typically, an infant with a congenital myopathy will be floppy, have difficulty breathing or feeding, and may lag behind other babies in meeting normal developmental milestones, such as turning over or sitting up.

There are currently several different types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. These include, nemaline myopathy, myotubular myopathy, centronuclear myopathy and several other forms. There is considerable variation in how these conditions present and progress.

Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system.

The hereditary neuropathies are divided into four major subcategories:

• hereditary motor and sensory neuropathy
• hereditary sensory neuropathy
• hereditary motor neuropathy
• hereditary sensory and autonomic neuropathy.

These conditions are rare in childhood. The most common type is also known as CharcotMarie-Tooth disease.

Symptoms of these neuropathies vary according to the type and may include sensory symptoms such as numbness, tingling, and pain in the feet and hands, or motor symptoms such as weakness and loss of muscle bulk, particularly in the lower leg and feet muscles.

The symptoms of hereditary neuropathies may be apparent in childhood or appear in middle or late life. They can vary among different family members, with some family members being more severely affected than others.

Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular disorders which usually cause weakness and fatigue. There are several types and symptoms can be variable.

Symptoms include weakness, especially of the eye, mouth, and throat that may worsen with activity, droopy eyelids, curvature of the spine (scoliosis), and feeding and breathing problems. In most cases, symptoms begin after birth or in early childhood.

There are several known genes responsible for some of these conditions which we can screen for in appropriate cases. There is no specific cure, but some medications can bring about a considerable improvement in most cases.

We also see children with myasthenia gravis, which is similar to CMS, and caused by circulating antibodies to proteins at the nerve.

Muscle junction CMS is similar to myasthenia gravis (MG), which is much more common and can sometimes affect children.

Joint diagnostic and advisory clinics for the childhood myasthenias are held monthly by the Oxford team and Dr Pinki Munot, Paediatric Neurologist, alternating between Great Ormond Street Hospital and Oxford.

Juvenile Myasthenia Gravis (JMG) is a rare autoimmune neuromuscular disorder that affects the communication between nerves and muscles, causing muscle weakness and fatigue. Symptoms can vary in severity and may fluctuate throughout the day, often worsening with activity and improving with rest. Common features include drooping eyelids (ptosis), double vision, facial weakness, difficulties with speech, chewing and swallowing, as well as weakness of the arms, legs, and breathing muscles.

JMG is caused by antibodies directed against proteins at the neuromuscular junction, most commonly the acetylcholine receptor. Diagnosis involves a combination of clinical assessment, antibody testing, neurophysiological studies, and, where appropriate, imaging and other specialist investigations. While there is no cure, a range of effective treatments are available, including symptomatic therapies, immunosuppressive medications, and thymectomy in selected cases. With appropriate treatment and multidisciplinary care, most children experience significant improvement in symptoms and quality of life.

The Great Ormond Street Hospital (GOSH) Juvenile Myasthenia Gravis Service provides specialist assessment, diagnosis, treatment, and long-term follow-up for children and young people with suspected or confirmed Juvenile myasthenia gravis. The service is led by Dr Pinki Munot, Consultant Paediatric Neurologist, and supported by Clinical Nurse Specialist Miss Emma Scott, working closely with colleagues in neurophysiology, respiratory medicine and ophthalmology.

Skeletal muscle channelopathies are a group of very rare neuromuscular disorders. They affect approximately 1 in 100,000 people in the UK. They cause muscle weakness or paralysis or a delay in relaxing muscles (myotonia) that often feels like cramp or the muscle becoming stuck. Sometimes this can be painful. Symptoms can begin at birth or shortly after and can include difficulties with breathing or feeding.

In older children symptoms more commonly include weakness or cramp of the muscles of the arms, legs and face. This can make walking and running difficult or lead to frequent falls. Symptoms are often triggered by cold weather, certain foods and exercise (or resting after exercise) and modifying diet and/or activity can also help.

Skeletal muscle channelopathies are genetic conditions and we can perform a genetic test for genes that we know cause them. These genetic conditions can’t be cured but there are a number of medicines that can help to control the symptoms. As these are very rare conditions most general physicians may only see 1 or 2 people with them during their career.

A specialist paediatric clinic has been created to provide a central service that has experience and expertise in diagnosing and managing these conditions in children. It is directly funded by NHS England to promote equality in health care for rare diseases. If a diagnosis of a channel problem has already been made then you may still be referred to us for advice on the management and treatment of your muscle symptoms. This is a multi-disciplinary clinic with a clinical nurse specialist and paediatric neurophysiotherapist also able to offer assessments and support.