The symptoms
The symptoms of the disease begin at the age of 35
may be characterized by dysfunction of the central nervous systems (CNS)
Refers to the brain and spine. Peripheral nerves extend to muscles, glands, skin, sense organs and internal organs.
Peripheral nerves include motor nerves, sensory nerves, and nerves of the autonomic nervous system, which are involved in involuntary bodily functions.
Facing with the disease
Differential Diagnosis
The reason the disease is so rare is that there are several reasons for misdiagnosis
- A single symptom can be associated with many different diseases.
- Doctors have no experience with rare disease.
- Information about the disease is limited.
There are several diseases or disorders with similar symptoms which makes the diagnosis challenging
- Multiple Sclerosis
- Leukodystrophy
- Hereditary spastic paraplegia
- amyotrophic lateral sclerosis (ALS)
- multiple system atrophy (MSA)
- Benign prostatic hyperplasia
The institutes for
genetic tests
The Genetic Institute at Ein Kerem Medical Center, Jerusalem
Phone number: 02-6776931
Email: bdadon@hadasha.org.il
The Genetic Institute at the Afula Medical Center
Phone number: 04-6495446
Sourasky Medical Center, Ichilov Hospital
Phone number: 03-6974704
The Dank Gartner Genetic Institute, Sheba Hospital
Dr. Lior Greenbaum is an expert in neurology and genetics
Phone number: 03-5303060
Email: mirp.genetica@sheba.gov.il
Email: mirp.genetica@sheba.gov.il
Relevant medical institutes
The Genetic Institute at the Sourasky Ichilov Medical Center
Dr. Panina Fonger, Neurological Array for Medical Genetics
Email: peninap@tlvmc.gov.il
The Genetic Institute at the Hadassah Ein Kerem Medical Center, Jerusalem
Professor Alexander Losos (international expert)
neurological array
Phone: 02-5842111
Email: alos@hadassah.org.il