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MYH7-related skeletal myopathy(MPD1)

MedGen UID:
1647391
Concept ID:
C4552004
Disease or Syndrome
Synonyms: Laing distal myopathy; Laing early-onset distal myopathy; Myopathy, distal, 1; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY
SNOMED CT: Distal myopathy type 1 (764859001); Laing early-onset distal myopathy (764859001); Gowers disease (764859001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): MYH7 (14q11.2)
 
Monarch Initiative: MONDO:0008050
OMIM®: 160500
Orphanet: ORPHA59135

Disease characteristics

Excerpted from the GeneReview: Laing Distal Myopathy
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal. [from GeneReviews]
Authors:
Phillipa Lamont  |  Nigel G Laing   view full author information

Additional description

From MedlinePlus Genetics
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.  https://medlineplus.gov/genetics/condition/laing-distal-myopathy

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Distal lower limb muscle weakness
MedGen UID:
324514
Concept ID:
C1836450
Finding
Reduced strength of the distal musculature of the legs.
Toe extensor amyotrophy
MedGen UID:
868722
Concept ID:
C4023127
Disease or Syndrome
Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.
Weakness of long finger extensor muscles
MedGen UID:
870168
Concept ID:
C4024601
Finding
Amyotrophy of ankle musculature
MedGen UID:
870171
Concept ID:
C4024604
Finding
Atrophy of the muscles of the ankle.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Tip-toe gait
MedGen UID:
98104
Concept ID:
C0427144
Finding
An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Neck muscle weakness
MedGen UID:
66808
Concept ID:
C0240479
Finding
Decreased strength of the neck musculature.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Rimmed vacuoles
MedGen UID:
340089
Concept ID:
C1853932
Finding
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
Type 1 muscle fiber predominance
MedGen UID:
344274
Concept ID:
C1854387
Finding
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
EMG: neuropathic changes
MedGen UID:
867363
Concept ID:
C4021727
Finding
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
Tibialis anterior muscle atrophy
MedGen UID:
868961
Concept ID:
C4023375
Finding
Wasting of the tibialis anterior muscle.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Mildly elevated creatine kinase
MedGen UID:
342469
Concept ID:
C1850309
Finding
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMYH7-related skeletal myopathy

Professional guidelines

Curated

Lamont P, Wallefeld W, Davis M, Udd B, Laing N
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.190. PMID: 21150886Free PMC Article

Recent clinical studies

Etiology

Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA
Orphanet J Rare Dis 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. PMID: 35854315Free PMC Article
Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E
Muscle Nerve 2018 Aug;58(2):224-234. Epub 2018 May 14 doi: 10.1002/mus.26137. PMID: 29624713
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies
Orphanet J Rare Dis 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1. PMID: 27387980Free PMC Article

Diagnosis

Naderi N, Mohsen-Pour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S
BMC Cardiovasc Disord 2023 Oct 4;23(1):487. doi: 10.1186/s12872-023-03538-8. PMID: 37794383Free PMC Article
Atemin S, Todorov T, Maver A, Chamova T, Georgieva B, Tincheva S, Pacheva I, Ivanov I, Taneva A, Zlatareva D, Tournev I, Guergueltcheva V, Gospodinova M, Chochkova L, Peterlin B, Mitev V, Todorova A
Neuromuscul Disord 2021 Jul;31(7):633-641. Epub 2021 Apr 26 doi: 10.1016/j.nmd.2021.04.004. PMID: 34053846
Hershkovitz T, Kurolap A, Ruhrman-Shahar N, Monakier D, DeChene ET, Peretz-Amit G, Funke B, Zucker N, Hirsch R, Tan WH, Baris Feldman H
Am J Med Genet A 2019 Mar;179(3):365-372. Epub 2018 Dec 27 doi: 10.1002/ajmg.a.61017. PMID: 30588760
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies
Orphanet J Rare Dis 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1. PMID: 27387980Free PMC Article
Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T
Neuromuscul Disord 2016 Mar;26(3):236-9. Epub 2015 Dec 3 doi: 10.1016/j.nmd.2015.11.011. PMID: 26782017

Prognosis

Naderi N, Mohsen-Pour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S
BMC Cardiovasc Disord 2023 Oct 4;23(1):487. doi: 10.1186/s12872-023-03538-8. PMID: 37794383Free PMC Article
Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA
Orphanet J Rare Dis 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. PMID: 35854315Free PMC Article

Clinical prediction guides

Naderi N, Mohsen-Pour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S
BMC Cardiovasc Disord 2023 Oct 4;23(1):487. doi: 10.1186/s12872-023-03538-8. PMID: 37794383Free PMC Article
Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA
Orphanet J Rare Dis 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. PMID: 35854315Free PMC Article
Ko JY, Lee M, Jang JH, Jang DH, Ryu JS
Medicine (Baltimore) 2019 Jul;98(28):e16389. doi: 10.1097/MD.0000000000016389. PMID: 31305444Free PMC Article
Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E
Gene 2019 May 20;697:159-164. Epub 2019 Feb 19 doi: 10.1016/j.gene.2019.02.011. PMID: 30794915

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