Distal myopathy

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Distal myopathy
Other namesDistal muscular dystrophy
Body Diagram.png
Red depicts the preferentially affected areas in distal myopathy.
Specialty Neurology, neuromuscular medicine
Symptoms Weakness of hands and/or feet
Complications Cardiomyopathy
Usual onsetVariable
DurationLifetime
TypesClassic, myofibrillar myopathy, other
Causes Genetic mutation of various genes
Diagnostic method Genetic testing, muscle biopsy
FrequencyRare

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]

Contents

Signs and symptoms

All 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

DYSF 4ihb pdb.png
DYSF

The 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

Classic distal muscular dystrophies
TypeEponymInheritance OMIM GeneLocusGene also implicated in:
Late adult-onset type 1 [4] WelanderAD [5] 604454 TIA1 [6] 2p13 [7]
Late adult-onset type 2a [5] - Finnish (tibial)UddAD [5] 600334 TTN [5] 2q31.2
Late adult-onset type 2b [5] Markesbery–GriggsAD [8] ZASP [5] 10q23.2
Early adult-onset type 1 [4] NonakaAR [5] 605820 GNE [5] 9p13.3
Early adult-onset type 2 [4] MiyoshiAR [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
Myofibrillar myopathies classifiable as distal myopathy
TypeEponymInheritance OMIM GeneLocusGene 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
Other distal muscular dystrophies
TypeEponymInheritance OMIM GeneLocusGene 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

In 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

As 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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Aoki, Masashi; Takahashi, Toshiaki (1993). "Dysferlinopathy". GeneReviews®. University of Washington, Seattle. PMID   20301480.
  4. 1 2 3 4 5 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.
  5. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 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.
  6. ↑ 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.
  7. ↑ 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.
  8. 1 2 3 4 5 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.
  9. ↑ Illa I (March 2000). "Distal myopathies". J. Neurol. 247 (3): 169–74. doi:10.1007/s004150050557. PMID   10787109.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ Udd, Bjarne (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   978-0-08-045031-5. PMID   21496636.
  14. ↑ "Persistence pays off with approval of distal myopathy drug". The Japan Times. 20 May 2024.

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