Question: What is (are) Limb-girdle muscular dystrophy type 2I ?
Answer: Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.
Source: GARD

Question: What are the symptoms of Limb-girdle muscular dystrophy type 2I ?
Answer: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. 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) Exercise-induced myoglobinuria 25% Achilles tendon contracture - Autosomal recessive inheritance - Calf muscle hypertrophy - Congenital muscular dystrophy - Difficulty climbing stairs - Difficulty walking - Dilated cardiomyopathy - Elevated serum creatine phosphokinase - Frequent falls - Hyperlordosis - Impaired left ventricular function - Kyphosis - Macroglossia - Muscle cramps - Myalgia - Nocturnal hypoventilation - Pelvic girdle muscle weakness - Proximal muscle weakness - Restrictive respiratory insufficiency - Scoliosis - Shoulder girdle muscle weakness - Thigh hypertrophy - Toe walking - Variable expressivity - Vertebral fusion - Waddling gait - 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