Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
Also known as: EDMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, LGMD1B, LMNA autosomal dominant limb-girdle muscular dystrophy, autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA, limb-girdle muscular dystrophy due to lamin A/C deficiency, muscular dystrophy, limb-girdle type 1B, proximal muscular dystrophy type 1B, EMD2.
Category: General
Symptoms associated with Emery-Dreifuss muscular dystrophy 2, autosomal dominant
The following symptoms have been associated with Emery-Dreifuss muscular dystrophy 2, autosomal dominant in medical literature. Not everyone experiences the same symptoms.
Distal lower limb muscle weakness
Reduced strength of the distal musculature of the legs....
Distal upper limb muscle weakness
Reduced strength of the distal musculature of the arms....
Exertional dyspnea
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest....
Fatigue
A subjective feeling of tiredness characterized by a lack of energy and motivation....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Limb-girdle muscle weakness
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength...
Peroneal muscle weakness
Weakness of the peroneal muscles....
Proximal lower limb muscle weakness
A lack of strength of the proximal muscles of the legs....
Proximal upper limb muscle weakness
A lack of strength of the proximal muscles of the arms....
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
Tests used to investigate Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Healthcare providers may order these tests when evaluating Emery-Dreifuss muscular dystrophy 2, autosomal dominant. 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 Emery-Dreifuss muscular dystrophy 2, autosomal dominant, which is why a clinical evaluation is important.
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Y is a medical condition that may be associated with vari...
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z is a medical condition that may be associated with vari...
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1F is a medical condition that may be associated with various symptoms and si...
congenital myopathy 25
congenital myopathy 25 is a medical condition that may be associated with various symptoms and signs....
myopathy, myofibrillar, 13, with rimmed vacuoles
A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axo...
neuronopathy, distal hereditary motor, autosomal recessive 7
neuronopathy, distal hereditary motor, autosomal recessive 7 is a medical condition that may be associated wit...
Frequently Asked Questions
What is Emery-Dreifuss muscular dystrophy 2, autosomal dominant?
Emery-Dreifuss muscular dystrophy 2, autosomal dominant is a health condition described in medical literature. Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
What are the symptoms of Emery-Dreifuss muscular dystrophy 2, autosomal dominant?
Emery-Dreifuss muscular dystrophy 2, autosomal dominant is associated with 11 symptoms in the medical literature we index, including Distal lower limb muscle weakness, Distal upper limb muscle weakness, Exertional dyspnea, Fatigue, Foot dorsiflexor weakness, Limb muscle weakness. Symptoms vary widely between individuals.
How is Emery-Dreifuss muscular dystrophy 2, autosomal dominant diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Emery-Dreifuss muscular dystrophy 2, autosomal dominant 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 Emery-Dreifuss muscular dystrophy 2, autosomal dominant, please discuss your symptoms with a qualified healthcare provider.