muscular dystrophy-dystroglycanopathy type B5
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Also known as: MDC1C, MDDGB5, congenital muscular dystrophy-FKRP related, muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5.
Category: General
Symptoms associated with muscular dystrophy-dystroglycanopathy type B5
The following symptoms have been associated with muscular dystrophy-dystroglycanopathy type B5 in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Muscle weakness
Reduced strength of muscles....
Myalgia
Pain in muscle....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Shoulder girdle muscle weakness
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refe...
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate muscular dystrophy-dystroglycanopathy type B5
Healthcare providers may order these tests when evaluating muscular dystrophy-dystroglycanopathy type B5. 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 muscular dystrophy-dystroglycanopathy type B5, which is why a clinical evaluation is important.
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....
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA depletion syndrome, myopathic form is a medical condition that may be associated with variou...
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...
congenital generalized lipodystrophy type 4
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene....
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 muscular dystrophy-dystroglycanopathy type B5?
muscular dystrophy-dystroglycanopathy type B5 is a health condition described in medical literature. A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
What are the symptoms of muscular dystrophy-dystroglycanopathy type B5?
muscular dystrophy-dystroglycanopathy type B5 is associated with 8 symptoms in the medical literature we index, including Dysphagia, Facial palsy, Generalized muscle weakness, Muscle weakness, Myalgia, Proximal muscle weakness. Symptoms vary widely between individuals.
How is muscular dystrophy-dystroglycanopathy type B5 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with muscular dystrophy-dystroglycanopathy type B5 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 muscular dystrophy-dystroglycanopathy type B5, please discuss your symptoms with a qualified healthcare provider.