Disease discovery

.Causes instability and dizziness
One of the more common symptoms of the disease - total lack of control over the sphincters
Difficulty walking
The disease causes a feeling of heaviness and fatigue and causes the patient to not be active at all
Weakness in the legs
Lack of blood supply to the legs causes a feeling of amputation in the limbs

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.

Faceing with the diease

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


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