Autosomal recessive limb-girdle muscular dystrophy type 2H

MONDO:0009683

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

7 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2H itself.

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↑ Autosomal recessive limb-girdle muscular dystrophy (18) ↑ Neuromuscular disease caused by qualitative or quantitative defects of TRIM32 (0)

Including sub-types (7) Tagged with Autosomal recessive limb-girdle muscular dystrophy type 2H (0)

Trials to join now! 6 Completed 1

Autosomal recessive limb-girdle muscular dystrophy type 2H

Where it sits in the disease tree

Mind-Controlled tablets: brain implant trial aims to give voice to the paralyzed

New handheld scanner could replace MRI for muscle disease monitoring

Virtual park cycling could slow muscle decline in children

Massive study seeks answers for rare inherited nerve diseases

Wearable tech tracks fatigue in muscle disease patients

Major study aims to better measure muscular dystrophy progression