Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin.[1]
Distal myopathy | |
---|---|
Other names | Distal muscular dystrophy |
Red depicts the preferentially affected areas in distal myopathy. | |
Specialty | Neurology, neuromuscular medicine |
Symptoms | Weakness of hands and/or feet |
Complications | Cardiomyopathy |
Usual onset | Variable |
Duration | Lifetime |
Types | Classic, myofibrillar myopathy, other |
Causes | Genetic mutation of various genes |
Diagnostic method | Genetic testing, muscle biopsy |
Frequency | Rare |
Signs and symptoms
editAll of the different types affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old. Distal myopathy has slow progress therefore the patient may not know that they have it until they are in their late 40s or 50s.[citation needed]
Miyoshi myopathy affects the posterior muscles of the lower leg, more so than the anterior muscles of the lower leg.[2][3]
Cause
editThe cause of this myopathy is very hard to determine because it can be a mutation in any of at least eight genes and not all are known yet. These mutations can be inherited from one parent, autosomal dominant, or from both parents, autosomal recessive. There are eight known types of distal myopathy.[citation needed]
Types
editType | Eponym | Inheritance | OMIM | Gene | Locus | Gene also implicated in: |
---|---|---|---|---|---|---|
Late adult-onset type 1[4] | Welander | AD[5] | 604454 | TIA1[6] | 2p13[7] | |
Late adult-onset type 2a[5] - Finnish (tibial) | Udd | AD[5] | 600334 | TTN[5] | 2q31.2 | |
Late adult-onset type 2b[5] | Markesbery–Griggs | AD[8] | ZASP[5] | 10q23.2 | ||
Early adult-onset type 1[4] | Nonaka | AR[5] | 605820 | GNE[5] | 9p13.3 | |
Early adult-onset type 2[4] | Miyoshi | AR[5] | 254130 | DYSF[5] | 2p13.3-p13.1 | limb-girdle muscular dystrophy type 2B.[9] |
Distal myopathy with anterior tibial onset (DMAT)[10][11] | 606768 | DMAT can be considered a variant of Miyoshi. | ||||
Early adult-onset type 3[4] | Laing (Gower) | AD[5] | 160500 | MYH7[5] | 14q11.2 | |
AD = autosomal dominant; AR = autosomal recessive |
Type | Eponym | Inheritance | OMIM | Gene | Locus | Gene also implicated in: |
---|---|---|---|---|---|---|
Desmin — adult onset (MFM1)[5]
Hereditary inclusion-body myositis type 1[5] |
AD | |||||
αB-crystallin — early - mid adult (MFM2)[5] | AD | |||||
ZASP— late adult (MFM4)[5] | AD | |||||
Scapuloperoneal[5] | AD | |||||
MFM = myofibrillary myopathy; AD = autosomal dominant; AR = autosomal recessive |
Type | Eponym | Inheritance | OMIM | Gene | Locus | Gene also implicated in: |
---|---|---|---|---|---|---|
Distal myopathy with vocal cord and pharyngeal weakness[4] | AD[5] | 606070 | MATR3[5] | 5q31[5] | Amyotrophic lateral sclerosis 21 (ALS21). One study suggests that all cases are ALS, justifying reclassification.[12] |
Diagnosis
editIn terms of diagnosis, Vocal cord and pharyngeal distal myopathy should be assessed via serum CK levels, as well as muscle biopsy of the individual suspected of being afflicted with this condition[13]
Management
editAs of 2011, no disease modifying treatments are known.[8] Foot drop can be managed with ankle-foot orthoses or surgical tendon transfer,[8] in which the tibialis posterior muscle is repurposed to function as a tibialis anterior muscle. In select types of distal myopathy, evaluation of the heart may be indicated.[8] Scoliosis and contractures can be surgically managed.[8] In 2024 a drug to treat distal myopathy was approved in Japan.[14]
References
edit- ^ Murakami N, Sakuta R, Takahashi E, et al. (December 2005). "Early onset distal muscular dystrophy with normal dysferlin expression". Brain Dev. 27 (8): 589–91. doi:10.1016/j.braindev.2005.02.002. PMID 16310593. S2CID 28957231.
- ^ Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC (December 2003). "Myopathy of distal lower limbs: the clinical variant of Miyoshi". Arq Neuropsiquiatr. 61 (4): 946–9. doi:10.1590/S0004-282X2003000600011. PMID 14762596.
- ^ Aoki, Masashi (1 January 1993). "Dysferlinopathy". GeneReviews. PMID 20301480. Retrieved 10 May 2016.
- ^ a b c d e Saperstein, DS; Amato, AA; Barohn, RJ (November 2001). "Clinical and genetic aspects of distal myopathies". Muscle & Nerve. 24 (11): 1440–50. doi:10.1002/mus.1167. PMID 11745945. S2CID 26573674.
- ^ a b c d e f g h i j k l m n o p q r s t Dimachkie, MM; Barohn, RJ (August 2014). "Distal myopathies". Neurologic Clinics. 32 (3): 817–42, x. doi:10.1016/j.ncl.2014.04.004. PMC 4109660. PMID 25037092.
- ^ Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evilä A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Åhlberg G, Edsröm L, Udd B (January 2013). "Welander Distal Myopathy Is Caused by a Mutation in the RNA-Binding Protein TIA1". Annals of Neurology. 73 (4): 500–509. doi:10.1002/ana.23831. PMID 23401021. S2CID 13908127.
- ^ von Tell D, Bruder CE, Anderson LV, Anvret M, Ahlberg G (August 2003). "Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus". Neurogenetics. 4 (4): 173–7. doi:10.1007/s10048-003-0154-z. PMID 12836053. S2CID 27539044.
- ^ a b c d e Udd, B (2011). "Distal muscular dystrophies". Muscular Dystrophies. Handbook of Clinical Neurology. Vol. 101. pp. 239–62. doi:10.1016/B978-0-08-045031-5.00016-5. ISBN 9780080450315. PMID 21496636.
- ^ Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. doi:10.1007/s004150050557. PMID 10787109. S2CID 39723106. Archived from the original on 2013-02-13.
- ^ Liu, J; Aoki, M; Illa, I; Wu, C; Fardeau, M; Angelini, C; Serrano, C; Urtizberea, JA; Hentati, F; Hamida, MB; Bohlega, S; Culper, EJ; Amato, AA; Bossie, K; Oeltjen, J; Bejaoui, K; McKenna-Yasek, D; Hosler, BA; Schurr, E; Arahata, K; de Jong, PJ; Brown RH, Jr (September 1998). "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy". Nature Genetics. 20 (1): 31–6. doi:10.1038/1682. PMID 9731526. S2CID 12018395.
- ^ Illa, I; Serrano-Munuera, C; Gallardo, E; Lasa, A; Rojas-García, R; Palmer, J; Gallano, P; Baiget, M; Matsuda, C; Brown, RH (January 2001). "Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype". Annals of Neurology. 49 (1): 130–4. doi:10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0. PMID 11198284.
- ^ Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H; Renton, AE; Pliner, HA; Abramzon, Y; Marangi, G; Winborn, BJ; Gibbs, JR; Nalls, MA; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, RW; Malaspina, A; Sidle, KC; Fratta, P; Harms, MB; Baloh, RH; Pestronk, A; Weihl, CC; Rogaeva, E; Zinman, L; Drory, VE; Borghero, G; Mora, G; Calvo, A; Rothstein, JD; ITALSGEN.; Drepper, C; Sendtner, M; Singleton, AB; Taylor, JP; Cookson, MR; Restagno, G; Sabatelli, M; Bowser, R; Chiò, A; Traynor, BJ (May 2014). "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis". Nature Neuroscience. 17 (5): 664–666. doi:10.1038/nn.3688. PMC 4000579. PMID 24686783.
- ^ Udd, Bjarne (1 January 2011). "Distal muscular dystrophies". Muscular Dystrophies. Handbook of Clinical Neurology. Vol. 101. pp. 239–262. doi:10.1016/B978-0-08-045031-5.00016-5. ISBN 9780080450315. ISSN 0072-9752. PMID 21496636. – via ScienceDirect (Subscription may be required or content may be available in libraries.)
- ^ "Persistence pays off with approval of distal myopathy drug". The Japan Times. 20 May 2024.
Further reading
edit- Udd, Bjarne (February 2007). "Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1772 (2): 145–158. doi:10.1016/j.bbadis.2006.08.005. PMID 17029922.