Question: What is (are) Limb-girdle muscular dystrophy type 2A ?
Answer: Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without cardiac involvement or intellectual disability. The condition is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Treatment is aimed at maintaining mobility and preventing complications. There are three subtypes of LGMD2A which differ by the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. Onset is usually before age 12 or after age 30; Scapulohumeral LGMD (also known as Erb LGMD) usually has milder symptoms with infrequent early onset. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected don't have symptoms, just high levels of creatine kinase in their blood.
Source: GARD

Question: What are the symptoms of Limb-girdle muscular dystrophy type 2A ?
Answer: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Facial palsy 5% Autosomal recessive inheritance - Clumsiness - Difficulty walking - Elevated serum creatine phosphokinase - Eosinophilia - Flexion contracture - Muscular dystrophy - Proximal amyotrophy - Scapular winging - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD