The diagnosis of<unk>  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 there's a mutation in LGMD2D). The 2014 Evidence-based guideline summary: Diagnosis and treatment of<unk><unk><unk>  and distal dystrophies indicates that individuals suspected of having the inherited disorder should have genetic testing. Other tests/analysis are: * High CK levels(x10-150 times normal) * MRI can indicate different types of LGMD. * EMG can confirm the myopathic characteristic of the disease. * Electrocardiography (cardiac arrhythmias in LGMD1B can occur) Types The "LGMD D" family is autosomal dominant, and the "LGMD R" family is autosomal recessive.<unk>  is explained in terms of gene, locus, OMIM and type as follows: +LGMD subtypes Name Inheritance Old Name OMIM Gene Gene also implicated in: Notes LGMD D1 DNAJB6-related Autosomal dominant LGMD1D DNAJB6 LGMD D2 TNP03-related LGMD1F TNPO3 LGMD D3 HNRNPDL-related LGMD1G HNRPDL LGMD D4 calpain3-related LGMD1I CAPN3 LGMD R1 Also referred to as "autosomal dominant calpainopathy." LGMD D5 collagen 6-related Bethlem myopathy dominant COL6A1, COL6A2, COL6A3 Congenital muscular dystrophy, LGMD R22 LGMD R1 calpain3-related Autosomal recessive LGMD2A CAPN3 LGMD D4 Also referred to as "autosomal recessive calpainopathy." LGMD R2 dysferlin-related LGMD2B DYSF Miyoshi myopathy type 1 (MMD1 - ). A dysferlinopathy LGMD R3 α-sarcoglycan-related SGCA sarcoglycanopathies LGMD R4 β -sarcoglycan-related LGMD2E SGCB LGMD R5 γ -sarcoglycan-related SGCG LGMD R6 δ-sarcoglycan-related LGMD2F SGCD LGMD R7 telethonin-related LGMD2G TCAP LGMD R8 TRIM 32-related LGMD2H TRIM32 LGMD R9 FKRP-related LGMD2I FKRP Congenital muscular dystrophy An α-dystroglycanopathy LGMD R10 titin-related LGMD2J TTN Congenital myopathy LGMD R11 POMT1-related LGMD2K POMT1 Congenital muscular dystrophy An α-dystroglycanopathy LGMD R12 anoctamin5-related LGMD2L ANO5 Miyoshi myopathy type 3 (MMD3 - ) LGMD R13 Fukutin-related LGMD2M FKTN Congenital muscular dystrophy An α-dystroglycanopathy LGMD R14 POMT2-related LGMD2N POMT2 Congenital muscular dystrophy An α-dystroglycanopathy LGMD R15 POMGnT1-related LGMD2O POMGNT1 Congenital muscular dystrophy An α-dystroglycanopathy LGMD R16 α-dystroglycan-related LGMD2P DAG1 Congenital muscular dystrophy An α-dystroglycanopathy LGMD R17 plectin-related LGMD2Q PLEC1 LGMD R18 TRAPPC11-related LGMD2S TRAPPC11 LGMD R19 GMPPB-related LGMD2T GMPPB Congenital muscular dystrophy An α-dystroglycanopathy LGMD R20 ISPD-related LGMD2U ISPD Congenital muscular dystrophy An α-dystroglycanopathy LGMD R21 POGLUT1-related LGMD2Z POGLUT1 LGMD R22 collagen 6-related Bethlem myopathy recessive COL6A1, COL6A2, COL6A3 Congenital muscular dystrophy, LGMD D5 LGMD R23 laminin α2-related Laminin α2-related muscular dystrophy LAMA2 Congenital muscular dystrophy LGMD R24 POMGNT2-related POMGNT2-related muscular dystrophy POMGNT2 Congenital muscular dystrophy An α-dystroglycanopathy LGMD R25 LGMD2X POPDC1 LGMD R26 POPDC3 LGMD R27 JAG2 LGMD R(number pending) PYROXD1 LGMD criteria For a disease entity to be classified as an LGMD, the following criteria must be met: * genetic, with an identifiable inheritance pattern such as autosomal dominant, autosomal recessive, digenic, or polygenic. * relatively selective to skeletal muscle * predominantly proximal muscle involvement * independent walking is achieved at one point in life * elevated serum creatine kinase * muscle fiber loss * dystrophic changes in muscle histology * degenerative changes on medical imaging * end-stage pathology seen in the most affected muscles * described in at least two unrelated families Differential Many diseases can manifest similarly to LGMD. Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy, and manifesting dystrophinopathy in female carriers, can present similarly to LGMD. Facioscapulohumeral muscular dystrophy can appear similarly, especially when it spares the facial muscles. Also in the differential are Emery-Dreifuss muscular dystrophies, Pompe disease, later-onset congenital myasthenic syndromes, and proximal-predominant hereditary motor neuropathies.
Limb–girdle muscular dystrophy
Peripheral neuropathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Muscular dystrophy
Emery–Dreifuss muscular dystrophy
Facioscapulohumeral muscular dystrophy
Spinal muscular atrophy