Question: What is (are) Tubular aggregate myopathy ?
Answer: Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue. The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene.
Source: GARD

Question: What are the symptoms of Tubular aggregate myopathy ?
Answer: What are the signs and symptoms of Tubular aggregate myopathy? In general, many people with tubular aggregate myopathy have muscle weakness, muscle cramps, and exercise induced fatigue. Typically the facial muscles are not affected in tubular aggregate myopathy. The Human Phenotype Ontology provides the following list of signs and symptoms for Tubular aggregate myopathy. 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) Abnormality of the pupil 5% External ophthalmoplegia 5% Flexion contracture 5% Nyctalopia 5% Respiratory insufficiency 5% Adult onset - Areflexia of lower limbs - Autosomal dominant inheritance - Difficulty running - Easy fatigability - Elevated serum creatine phosphokinase - Exercise-induced myalgia - Frequent falls - Hyporeflexia of lower limbs - Increased variability in muscle fiber diameter - Muscle cramps - Muscle stiffness - Myopathy - Proximal amyotrophy - Proximal muscle weakness - Slow progression - Type 2 muscle fiber atrophy - Weakness of the intrinsic hand muscles - 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. Are there different types of tubular aggregate myopathy? Yes. Symptoms of tubular aggregate myopathy can be be grouped into at least three different types. The first type is characterized by exercise induced cramps with or without muscle pain associated or not with weakness in the proximal muscles. The second type of tubular aggregate myopathy is characterized by isolated, slowly progressive weakness of the proximal muscles. The third type is characterized by progressive proximal weakness and sometimes fatigability. In this type the serum creatine kinase levels are often elevated.
Source: GARD

Question: What causes Tubular aggregate myopathy ?
Answer: What causes tubular aggregate myopathy? Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene.
Source: GARD