Additional possible presentations include:

In most cases, pain is not present with LGMD, and mental function is not affected. LGMD can begin in childhood, adolescence, young adulthood or even later, the age of onset is usually between 10 and 30. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood, the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly. There is no sensory neuropathy or autonomic or visceral dysfunction at presentation. Genetics
LGMD is a genetic and heritable disorder, due to one of many genetic mutations of proteins involved in muscle function. All currently identified LGMDs have an inheritance pattern that is dominant or recessive, although the definition of LGMD allows for diseases with more complicated inheritance patterns to be classified as LGMD. Examples of proteins affected in LGMD are α, β, γ and δ sarcoglycans. Diagnosis
The diagnosis of limb–girdle muscular dystrophy can be done via muscle biopsy, which will show the presence of muscular dystrophy, and genetic testing is used to determine which type of muscular dystrophy a patient has. Immunohistochemical dystrophin tests can indicate a decrease in dystrophin detected in sarcoglycanopathies. In terms of sarcoglycan deficiency there can be variance (if α-sarcoglycan and γ-sarcoglycan are not present then theres a mutation in LGMD2D).The 2014 Evidence-based guideline summary: Diagnosis and treatment of limb–girdle and distal dystrophies indicates that individuals suspected of having the inherited disorder should have genetic testing.
About 50% of such cases manifest abdominal pain, and they are often associated with hematologic abnormalities and spontaneous rupture. Cowden syndrome
Cowden syndrome is a serious genetic disorder characterized by multiple hamartomas. Usually skin hamartomas exist, and commonly (in about 66% of cases) hamartoma of the thyroid gland exists. Additional growths can form in many parts of the body, especially in bones, CNS, the eyes, the genitourinary tract, the GI tract, and mucosa. The hamartomas themselves may cause symptoms or even death, but morbidity is more often associated with increased occurrence of malignancies, usually in the breast or thyroid. Cowden syndrome is considered a PTEN hamartoma tumor syndrome (PHTS), which also includes Bannayan–Riley–Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. Prognosis
Hamartomas, while generally benign, can cause problems due to their location. For example, when located on the skin, especially on the face or neck, they can be very disfiguring. Cases have been reported of hamartomas the size of a small orange. They may obstruct practically any organ in the body, such as the colon, eye, etc. They are particularly likely to cause major health issues when located in the hypothalamus, kidneys, lips, or spleen. They can be removed surgically if necessary, and are not likely to recur. Prognosis will depend upon the location and size of the lesion, as well as the overall health of the patient. See also
Hamartia (medical term)
List of cutaneous conditions

References
External links

"Topic 28: Angiomyolipoma". eMedicine.com Radio. 2019-04-05. "Topic 316: Lung Hamartoma". eMedicine.com Radio. 2018-12-17.