Type | Inheritance | Usual age of onset (years) | Initial weakness | Serum creatine kinase | Muscle biopsy | Locus/gene |
Nonaka distal myopathy (hereditary inclusion body myopathy*) | Autosomal recessive or sporadic | 15 to 20 | Legs: anterior compartment | Slightly to moderately increased, usually <10 times normal | Myopathic with rimmed vacuoles | 9p13.3 GNE |
Miyoshi muscular dystrophy 1 (LGMD R2¶) | Autosomal recessive or sporadic | <20 | Legs: posterior compartment | Increased 10 to 100 times normal | Myopathic, usually without vacuoles; gastrocnemius often "end stage" | 2p13.3 DYSF |
Miyoshi muscular dystrophy 3 (LGMD R12Δ) | Autosomal recessive | >20 | Legs: posterior compartment | Increased 20 to 50 times normal | Myopathic | 11p14.3 ANO5 |
Welander distal myopathy | Autosomal dominant | >40 | Hands: fingers and wrist extensors | Normal or slightly increased | Myopathic; rimmed vacuoles in some cases | 2p13 TIA1 |
Udd distal myopathy | Autosomal dominant | >35 | Legs: anterior compartment | Normal or slightly increased | Vacuolar myopathy | 2q31 TTN |
Markesbery-Griggs late onset distal myopathy | Autosomal dominant | >40 | Legs: anterior compartment | Normal or slightly increased | Vacuolar and myofibrillar myopathy | 10q22.3-q23.2 LDB3 |
Distal myotilinopathy | Autosomal dominant | >40 | Legs: posterior > anterior compartment | Slightly increased | Vacuolar and myofibrillar myopathy | 5q31 MYOT |
Laing distal myopathy (MPD1) | Autosomal dominant | <20 | Legs: anterior compartment; neck flexors | Slightly increased to ≤3 times normal | Moderate myopathic changes; no vacuoles | 14q12 MYH7 |
Distal myopathy with vocal cord and pharyngeal signs (ALS21◊) | Autosomal dominant | 35 to 70 | Asymmetric lower legs and hands; variable dysphonia and dysphagia | 1 to 8 times normal | Rimmed vacuoles | 5q31 MATR3 |
New Finnish distal myopathy (MPD3) | Autosomal dominant | >30 | Hands or anterior lower legs | 1 to 4 times normal | Dystrophic; rimmed vacuoles, eosinophilic inclusions | 8p22-q11 |
Williams distal myopathy (MPD4) | Autosomal dominant | 20 to 40 | Hands | Normal to 6 times normal | Normal, or myopathic changes | 7q32.1 FLNC |
Distal myopathy with pes cavus and areflexia (vacuolar neuromyopathy) | Autosomal dominant | 15 to 50 | Legs: lower anterior and posterior; dysphonia and dysphagia | 2 to 6 times normal | Dystrophic, rimmed vacuoles | 19p13.3 |
Distal myopathy with rimmed vacuoles | Autosomal dominant | 35 to 60 | Anterior lower legs | 1 to 2 times normal | Dystrophic, rimmed vacuoles | 5q35.3 SQSTM1 |
ANO5: anoctamin 5 gene; DYSF: dysferlin gene; FLNC: filamin C, gamma gene; GNE: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene; LDB3: LIM domain binding 3 gene; LGMD, limb-girdle muscular dystrophy; MATR3: matrin 3 gene; MPD1: distal myopathy 1; MPD2: distal myopathy 2; MPD3: distal myopathy 3; MPD4: distal myopathy 4; MYH7: myosin heavy chain 7 cardiac muscle beta gene; MYOT: myotilin gene; SQSTM1: sequestosome 1 gene; TIA1: TIA1 cytotoxic granule-associated RNA binding protein gene; TTN: titin gene.
* Autosomal recessive hereditary inclusion body myopathy (HIBM or IBM2), also known as quadriceps sparing myopathy, and Nonaka distal myopathy are allelic disorders caused by mutations in the GNE gene.
¶ LGMD type R2 (previously LGMD 2B) co-localizes with Miyoshi muscular dystrophy 1.
Δ LGMD R12 (previously LGMD 2L) co-localizes with Miyoshi muscular dystrophy 3.
◊ In some families, MATR3 mutations cause familial amyotrophic lateral sclerosis.
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