LGMD2 D

GPTKB entity

Statements (54)

Predicate	Object
gptkbp:instance_of	gptkb:muscular_dystrophy
gptkbp:affects	skeletal muscles
gptkbp:associated_with	gptkb:Cardiology fatigue difficulty walking respiratory issues scoliosis joint contractures gait abnormalities cardiac issues progressive muscle degeneration falling episodes
gptkbp:breeding_range	chromosome 13
gptkbp:caused_by	mutations in the SGCG gene
gptkbp:clinical_trial	ongoing for new therapies available for treatment options proximal muscle weakness
gptkbp:community_involvement	critical for funding and research
gptkbp:diagnosis	genetic testing clinical evaluation and genetic testing
gptkbp:difficulty_levels	varies among individuals
gptkbp:discovered_by	1990s
gptkbp:diseases	other types of LGMD
gptkbp:family	often present
gptkbp:financial_support	important for emotional well-being
gptkbp:funding	sought for better treatments
gptkbp:genetic_studies	recommended for families can confirm diagnosis
https://www.w3.org/2000/01/rdf-schema#label	LGMD2 D
gptkbp:inherits_from	autosomal recessive
gptkbp:is_involved_in	available for patients and families
gptkbp:lifespan	may be normal with care
gptkbp:muscle_biopsy	may show dystrophic changes
gptkbp:muscle_groups_affected	thighs shoulders hips pelvic girdle
gptkbp:patient_prognosis	varies widely
gptkbp:premiered_on	childhood to early adulthood
gptkbp:prevalence	rare disorder
gptkbp:protein_deficiency	gptkb:sarcoglycan_complex
gptkbp:public_awareness	increased through advocacy
gptkbp:research	ongoing studies
gptkbp:symptoms	muscle weakness muscle wasting important for quality of life typically in late childhood or early adulthood
gptkbp:training	can be beneficial but should be supervised
gptkbp:treatment	physical therapy supportive care occupational therapy gene therapy under investigation
gptkbp:bfsParent	gptkb:muscular_dystrophy
gptkbp:bfsLayer	5