facioscapulohumeral muscular dystrophy 1
Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
Also known as: FSHD, FSHD1, FSHD1A, Landouzy-Dejerine muscular dystrophy, facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 1A, facioscapulohumeral muscular dystrophy type 1, muscular dystrophy, facioscapulohumeral, type 1A, Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included, facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles.
Category: General
Symptoms associated with facioscapulohumeral muscular dystrophy 1
The following symptoms have been associated with facioscapulohumeral muscular dystrophy 1 in medical literature. Not everyone experiences the same symptoms.
Abdominal wall muscle weakness
Decreased strength of the abdominal musculature....
Dysphagia
Difficulty in swallowing....
External ophthalmoplegia
Paralysis of the external ocular muscles....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Shoulder girdle muscle weakness
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refe...
Tests used to investigate facioscapulohumeral muscular dystrophy 1
Healthcare providers may order these tests when evaluating facioscapulohumeral muscular dystrophy 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with facioscapulohumeral muscular dystrophy 1, which is why a clinical evaluation is important.
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Brown-Vialetto-van Laere syndrome 1
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene....
Full NF2-related schwannomatosis
Full NF2-related schwannomatosis is a medical condition that may be associated with various symptoms and signs...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthri...
Frequently Asked Questions
What is facioscapulohumeral muscular dystrophy 1?
facioscapulohumeral muscular dystrophy 1 is a health condition described in medical literature. Any facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
What are the symptoms of facioscapulohumeral muscular dystrophy 1?
facioscapulohumeral muscular dystrophy 1 is associated with 8 symptoms in the medical literature we index, including Abdominal wall muscle weakness, Dysphagia, External ophthalmoplegia, Facial palsy, Scapular winging, Seizure. Symptoms vary widely between individuals.
How is facioscapulohumeral muscular dystrophy 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with facioscapulohumeral muscular dystrophy 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have facioscapulohumeral muscular dystrophy 1, please discuss your symptoms with a qualified healthcare provider.