Hereditary Sensory Neuropathy Type 1 (HSN1) Symptoms, Doctors, Treatments, Advances & More

Learn About Hereditary Sensory Neuropathy Type 1 (HSN1)

What is the definition of Hereditary Sensory Neuropathy Type 1 (HSN1)?

Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. HSN1 is caused by genetic changes in any of several genes, depending on the form of HSN1 (HSN1A is caused by genetic changes in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by genetic changes in the SPTLC2 gene; HSN1D is caused by genetic changes in the ATL1 gene and HSN1E is caused by genetic changes in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner.

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What are the alternative names for Hereditary Sensory Neuropathy Type 1 (HSN1)?

Hereditary sensory neuropathy type 1
HSAN 1
HSN1
Hereditary sensory and autonomic neuropathy type 1
Neuropathy hereditary sensory and autonomic type 1
Neuropathy hereditary sensory radicular, autosomal dominant

Who are the top Hereditary Sensory Neuropathy Type 1 (HSN1) Local Doctors?

Thorsten Hornemann

Elite

Highly rated in

conditions

University Of Zurich

Zurich, ZH, CH

Thorsten Hornemann practices in Zurich, Switzerland. Hornemann is rated as an Elite expert by MediFind in the treatment of Hereditary Sensory Neuropathy Type 1 (HSN1). He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Hereditary Sensory Neuropathy Type 1 (HSN1), Hajdu-Cheney Syndrome, Hereditary Sensory and Autonomic Neuropathy Type 2, Autonomic Neuropathy, and Gastric Bypass.

Dr. Florian S. Eichler

Neurology

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Highly rated in

conditions

Neurology

Mass General Brigham

Massachusetts General Hospital Main Campus

55 Fruit St,

Boston, MA

Florian Eichler is a Neurologist in Boston, Massachusetts. Eichler has been practicing medicine for over 26 years and is rated as an Elite expert by MediFind in the treatment of Hereditary Sensory Neuropathy Type 1 (HSN1). He is also highly rated in 24 other conditions, according to our data. His top areas of expertise are CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, and Hereditary Sensory Neuropathy Type 1 (HSN1). He is licensed to treat patients in Massachusetts. Eichler is currently accepting new patients.

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Mary M. Reilly

Elite

Highly rated in

conditions

National Hospital Of Neurology And Neurosurgery

London, GB

Mary Reilly practices in London, United Kingdom. Reilly is rated as an Elite expert by MediFind in the treatment of Hereditary Sensory Neuropathy Type 1 (HSN1). She is also highly rated in 44 other conditions, according to our data. Her top areas of expertise are Charcot-Marie-Tooth Disease, Hereditary Sensory Neuropathy Type 1 (HSN1), Hajdu-Cheney Syndrome, Hereditary Sensory and Autonomic Neuropathy Type 2, and Kidney Transplant.

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What are the latest Hereditary Sensory Neuropathy Type 1 (HSN1) Clinical Trials?

MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG

Who is this study for: Child to adult patients with Mucopolysaccharidosis Disorder, Glycoprotein Metabolic Disorder, Sphingolipidoses and Recessive Leukodystrophy, Peroxisomal Disorder, Osteopetrosis, Hereditary Leukoencephalopathy, or other Inherited Metabolic Disorders

Enrollment Status: Recruiting

Publish Date: November 03, 2022

Intervention Type: Drug, Biological

Study Drugs: FludarabineBusulfanAnti-Thymocyte GlobulinThiotepaRituximabAlemtuzumabN-AcetylcysteineCelecoxibVitamin EAlpha Lipoic Acid

Study Phase: Phase 2

Summary: This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with busulfan therapeutic drug monitoring (TDM) for patients with various inherited metabolic disorders (IMD) and severe osteopetrosis (OP).

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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)

Enrollment Status: Recruiting

Publish Date: July 06, 2022

Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Hereditary Sensory Neuropathy Type 1 (HSN1)?