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Dubowitz Neuromuscular Centre Hammersmith Hospitals NHS Trust Imperial College Referral Centre for Congenital Muscular Dystrophies 769869543 Page 1 of 3 Edition: 1.0 Imperial College – Referral Centre for Congenital Muscular Dystrophy Funded through the National Specialist Commissioning Advisory Group (NSCAG). Department of Health Pre-referral form Note: We cannot accept samples unless this is completed Please provide us with a recent clinical letter & clinical photographs and copy of MRI imaging if available This is currently only a free service to patients living in England and Scotland. We are able to accept biopsies and DNA samples from outside England and Scotland, but charges will have to be made (please enquire). The results and advice we are able to give you will be generated using a combined approach incorporating clinical information specialised analysis of muscle biopsy analysis of DNA from a blood sample The combination of these approaches is needed to offer an informed opinion because of the heterogeneity within this group of disorders. SERVICES AND INVESTIGATIONS REQUIRED tick where appropriate Three levels of service are offered. Please indicate which you require and then fill in ALL of the form. Loci LAMA2 Clinical assessment Biopsy analysis DNA analysis (linkage & mutation analysis) only for cases confirmed at the protein level. See Note 1 FKRP COL6 SEPN1 Return form to: Dr. Lucy Feng, Dubowitz Neuromuscular Centre, L.Block, 3rd Floor, Hammersmith Hospital, Du Cane Road, London W12 ONN. Tel: 020 8383 2126; Fax: 020 8746 2187. [email protected]. To discuss the clinical features contact: Dr. Stephanie Robb: Tel: 020 8383 3305; bleep: 9266; Secretary Tel: 020 8383 2485. [email protected]. Other enquiries to: Mrs. Phil Davies (NSCAG Administrator) Tel: 020 8383 2127, [email protected] or Dr. Cecilia Jimenez-Mallebrera Tel: 020 8383 2127 [email protected] D:\769869543.doc 07/05/2017 Biopsy Nº: l eave blank for admin DNA Nº: EM Nº: PATIENT INFORMATION Hosp. Nº: NHS Nº: Male/Female: Forename: Surname: D.O.B: Address: Patient Post Code (essential) Referring clinician/clinical scientist: Address for correspondence: _______________________ Specific reason for referral: SPECIMEN blood 1 see accompanying document “How to collect & send clinical samples” DNA muscle biopsy skin biopsy C.V.S cell culture DNA/blood samples must be sent directly to Guy’s Hospital (see document “How to collect & send clinical samples” for Address) DATE essential! & TIME OF BIOPSY: TYPE OF BIOPSY: open needle fresh frozen ANATOMICAL SITE: Has consent for storage of the sample been obtained? Has consent for processing the sample for research been obtained? Yes Yes No No CLINICAL INFORMATION tick where appropriate DECREASED FOETAL MOVEMENTS POLYHYDRAMNIOS HYPOTONIA CONGENITAL HIP DISLOCATION CONTRACTURES, describe: DELAYED MOTOR MILESTONES JOINT LAXITY SKIN CHANGES, describe: AGE AT ONSET: AGE AT SITTING: CURRENT FUNCTIONAL LEVEL: AGE AT WALKING: Ambulant and able to climb stairs Uses wheelchair full time Unable to climb stairs MAXIMAL MOBILITY ACHIEVED (if different): MUSCLE WEAKNESS: BULBAR FACIAL (Describe pattern of weakness & age at onset): D:\769869543.doc 07/05/2017 PTOSIS RESPIRATORY SCOLIOSIS RIGIDITY SPINE FEEDING DIFFICULTIES VENTILATORY SUPPORT GASTROSTOMY RECURRENT CHEST INFECTIONS FAILURE TO THRIVE EPILEPSY LEARNING DIFFICULTIES MENTAL RETARDATION CARDIAC INVOLVEMENT EYE INVOLVEMENT CONSANGUINITY AFFECTED FAMILY MEMBERS: (indicate family relationship) RESULTS OF BRAIN IMAGING (describe): CK LEVELS: AT AGE: Normal upper limits in your lab: MUSCLE WASTING (describe): HYPERTROPHY (describe): PRELIMINARY CLINICAL DIAGNOSIS AT REFERRAL: Signed: D:\769869543.doc Date: 07/05/2017