Inherited Peripheral Neuropathies

Diseases covered

Our service covers the following:

• Charcot-Marie-Tooth (CMT) disease
• Distal hereditary motor neuropathies (dHMN)
• Hereditary sensory neuropathies (HSN)
• Familial amyloid polyneuropathy (FAP)
• Multisystem neurogenetic disease that include neuropathy

Diagnosis and treatment

All routine nerve tests are available including:

• Molecular genetic testing
• Extensive peripheral nerve blood screening
• Neurophysiological investigations (nerve conduction studies, EMG, thermal thresholds)
• 3 Tesla MRI

We also provide a specialised nerve biopsy service including detailed immunohistochemical analysis and electro-microscopy for rare inherited conditions.

The following treatment is available:

• Specialised physiotherapy
• Orthopaedic equipment
• Occupational therapy
• Genetic counselling service (covers diagnosis, predictive ante-natal and pre-implantation)

The option to enter therapy trials is offered to appropriate patients.

How to refer

Please write to:
Prof. Mary Reilly
MRC Centre for Neuromuscular Diseases
Box 102
National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG

Further information and support

• CMT support group  http://cmt.org.uk/
• The Neurogenetics Unit is within the Department of Molecular Neuroscience at the Institute of Neurology.
• The Neuroimmunology and Cerebrospinal fluid Laboratory (NICL) is a unique facility providing a specialist Neuroimmunology service.
• The Division of Neuropathology at Queen Square is one of the leading academic and diagnostic neuropathology departments in the UK.
• The Neurological Alliance provide the only collective voice for 80 organisations working together to make life better for millions of people in England with a neurological condition.
• The James Lind Alliance The JLA aims to change the way research funding is granted and increase awareness of research questions which are of direct relevance and potential benefit to patients and the clinicians who treat them.

Papers

• Review of CMT
  Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. PMID: 21504497
• Review on dHMN
  Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2011 Oct 25. PMID: 22028385

Research projects and trials

Our service is running research projects on several aspects of genetic neuropathies:

See the Queen Square Clinical Trials Centre for current information.

Meet the team