COMMON Features of the Disorder Difficulty walking Wheelchair assistance Scoliosis Joint contractures Muscle cramps Exercise intolerance Cardiomyopathy (weak heart muscles) Breathing problems PROGNOSIS Individuals can be affected to different degrees, [evolvegene.com]

Get Update Overview Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. [diseaseinfosearch.org]

[…] arms and upper legs 0003701 Scapular muscle atrophy 0009060 Scapular winging Winged shoulder blade 0003691 Spinal rigidity Reduced spine movement 0003306 Toe walking Toe-walking 0040083 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty [rarediseases.info.nih.gov]

In addition to proper diagnosis of our patient, our results identified onecarrierin100 control Vietnamese samples ( Figure 2 ), indicating that c.424C T is a frequent mutation in the Vietnamese population. [omicsonline.org]

At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. [ncbi.nlm.nih.gov]

At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. [ncbi.nlm.nih.gov]

Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'. [patient.info]

[…] symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Facial palsy Bell's palsy 0010628 Wrist flexion contracture 0001239 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Clumsiness [rarediseases.info.nih.gov]

phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Hamstring contractures 0003089 Hyperlordosis Prominent swayback 0003307 Lower limb muscle weakness Lower extremity weakness Lower [rarediseases.info.nih.gov]