autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
Also known as: LGMD2H, Sarcotubular myopathy, TRIM32 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32, autosomal recessive limb-girdle muscular dystrophy type 2H, limb-girdle muscular dystrophy due to TRIM32 deficiency, muscular dystrophy, limb-girdle, autosomal recessive 8, sarcotubular myopathy, limb-girdle muscular dystrophy type 2H, muscular dystrophy limb-girdle type 2H.
Category: General
Symptoms associated with autosomal recessive limb-girdle muscular dystrophy type 2H
The following symptoms have been associated with autosomal recessive limb-girdle muscular dystrophy type 2H in medical literature. Not everyone experiences the same symptoms.
Exercise-induced myalgia
The occurrence of an unusually high amount of muscle pain following exercise....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Neck flexor weakness
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scale...
Paresthesia
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause....
Pelvic girdle muscle weakness
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the ...
Proximal muscle weakness
A lack of strength of the proximal muscles....
Quadriceps muscle weakness
Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)....
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 autosomal recessive limb-girdle muscular dystrophy type 2H
Healthcare providers may order these tests when evaluating autosomal recessive limb-girdle muscular dystrophy type 2H. 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 autosomal recessive limb-girdle muscular dystrophy type 2H, which is why a clinical evaluation is important.
Miyoshi myopathy
Miyoshi myopathy is a medical condition that may be associated with various symptoms and signs....
Pure mitochondrial myopathy
Pure mitochondrial myopathy is a medical condition that may be associated with various symptoms and signs....
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, b...
myopathy, myofibrillar, 9, with early respiratory failure
myopathy, myofibrillar, 9, with early respiratory failure is a medical condition that may be associated with v...
nemaline myopathy 5C, autosomal dominant
nemaline myopathy 5C, autosomal dominant is a medical condition that may be associated with various symptoms a...
Frequently Asked Questions
What is autosomal recessive limb-girdle muscular dystrophy type 2H?
autosomal recessive limb-girdle muscular dystrophy type 2H is a health condition described in medical literature. Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
What are the symptoms of autosomal recessive limb-girdle muscular dystrophy type 2H?
autosomal recessive limb-girdle muscular dystrophy type 2H is associated with 8 symptoms in the medical literature we index, including Exercise-induced myalgia, Facial palsy, Neck flexor weakness, Paresthesia, Pelvic girdle muscle weakness, Proximal muscle weakness. Symptoms vary widely between individuals.
How is autosomal recessive limb-girdle muscular dystrophy type 2H diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with autosomal recessive limb-girdle muscular dystrophy type 2H 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 autosomal recessive limb-girdle muscular dystrophy type 2H, please discuss your symptoms with a qualified healthcare provider.