Outpatient clinic neuromuscular diseases

The neuromuscular outpatient clinic at the Department of Clinical Genetics LUMC offers patient care to adults and children with:

  1. A muscle (nerve) disorder confirmed on the basis of a known error in the genetic material. During the initial interview at the clinic, the course and the inheritance of the disorder will be explained. We will also discuss with you whether there are indications for DNA testing in any relatives.
  2. A confirmed muscle (nerve) disease, but with an as yet unknown error in the genetic material that causes the disease.
  3. An as yet unknown condition affecting the muscles or nerves.

In addition, healthy adults are also seen at the outpatient on the basis of a family history that indicates an increased risk of a genetic predisposition to a muscle (nerve) disorder (category 4).

Common topics

The following topics are common at this clinic:

  • Duchenne/Becker muscular dystrophy
  • Facioscapulohumeral muscular dystrophy (FSHD)
  • Limb Girdle muscular dystrophy (LGMD)
  • Myotonic dystrophy type 1
  • Myotonic dystrophy type 2 (PROMM)
  • Spastic paraplegia
  • Hereditary Motor and Sensory Neuropathy (HMSN)/Charcot-Marie-Tooth (CMT)

Consultation with a clinical geneticist

The genetic counsellor will discuss your medical history, your family history and, in some cases, will carry out a physical examination.

Depending on the specific question, an interview may be necessary (patients in categories 1 & 4), DNA testing for a known error in the genetic material may be required (patients in category 2), or new technologies may be used to search for the cause of the muscle (nerve)-related symptoms (patients in category 3).

Two tubes of blood are generally required for DNA testing and the blood test can usually be carried out on the same day.

Discussing test results

The clinical geneticist collects the DNA test results. How you wish to receive the results, in person at the clinic or via a telephone appointment, will be agreed with you in advance. Most of the Category 2 related results will be available within 12 weeks of the first consultation. The conclusions will also be sent to you by post.

Our team (neuromuscular diseases)

  • Mw. dr M. Kriek (coordinator), clinical geneticist
  • Mw. dr S.A.M.J. Lesnik Oberstein, clinical geneticist
  • Physician assistant in training to become a clinical geneticist

In close cooperation with:

  • Dhr. dr. Niks, paediatric neurologist
  • Dhr. Prof. Dr. Verschuuren, neurologist
  • Mw. dr. Straathof, neurologist
  • Dhr. dr. Badrising, neurologist