Wieacker Wolff Syndrome Overview
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Learn About Wieacker Wolff Syndrome
What is the definition of Wieacker Wolff Syndrome?
Wieacker Wolff syndrome is a rare X-linked recessive genetic disorder of the joints, muscles, and intellect that mainly occurs in males.
What are the symptoms of Wieacker Wolff Syndrome?
Symptoms of Wieacker Wolff syndrome include progressive muscle degeneration, joint deformities of the feet (contractures), inability to move some muscles in the eyes, face, and tongue, and mild intellectual disability. Muscle weakness may cause respiratory distress. Some individuals may also have curvature of the spine (scoliosis), spasticity, or seizures.
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What are the current treatments for Wieacker Wolff Syndrome?
Treatment for Wieacker Wolff syndrome focuses on alleviating the symptoms and supportive care and may include speech therapy, physical therapy, and surgery.
Who are the top Wieacker Wolff Syndrome Local Doctors?
Geriatrics | Internal Medicine
Experienced in Wieacker Wolff Syndrome
Geriatrics | Internal Medicine
138 Webster Street,
Manchester, NH
Languages Spoken:
English
Consuelo Alvarez is a Geriatrics specialist and an Internal Medicine provider in Manchester, New Hampshire. Dr. Alvarez and is rated as an Experienced provider by MediFind in the treatment of Wieacker Wolff Syndrome. Her top areas of expertise are Rickets, Osteomalacia, High Cholesterol, and Hypothyroidism.
Neurology
Advanced in Wieacker Wolff Syndrome
Neurology
Foundation Medical Partners Inc
8 Prospect St,
Nashua, NH
Languages Spoken:
English
Accepting New Patients
Offers Telehealth
Philip Savia is a Neurologist in Nashua, New Hampshire. Dr. Savia and is rated as an Advanced provider by MediFind in the treatment of Wieacker Wolff Syndrome. His top areas of expertise are New Daily Persistent Headache (NDPH), Memory Loss, Generalized Tonic-Clonic Seizure, and Transient Ischemic Attack (TIA). Dr. Savia is currently accepting new patients.
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What are the latest Wieacker Wolff Syndrome Clinical Trials?
What are the Latest Advances for Wieacker Wolff Syndrome?
A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 20, 2023
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Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.
Journal: Genes
Published: July 29, 2022