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Hereditary myopathy with early respiratory failure(HMERF)

MedGen UID:
350930
Concept ID:
C1863599
Disease or Syndrome
Synonyms: EDSTROM MYOPATHY; Hereditary Myopathy with Early Respiratory Failure (HMERF); HMERF; MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: MPRM - myopathy, proximal, with early respiratory muscle involvement (702373006); HMERF - hereditary myopathy with early respiratory failure (702373006); Hereditary myopathy with early respiratory failure (702373006)
 
Gene (location): TTN (2q31.2)
OMIM®: 603689
Orphanet: ORPHA178464

Disease characteristics

Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakness eventually generalizes and affects both proximal and distal muscles. Most affected individuals require walking aids within a few years of onset; some progress to wheelchair dependence and require nocturnal noninvasive ventilatory support. The disease course varies even among individuals within the same family: some remain ambulant until their 70s whereas others may require ventilator support in their 40s. [from GeneReviews]
Authors:
Gerald Pfeffer  |  Patrick F Chinnery   view full author information

Additional descriptions

From NCBI curation
Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakness eventually generalizes and affects both proximal and distal muscles. Most affected individuals require walking aids within a few years of onset; some progress to wheelchair dependence and require nocturnal noninvasive ventilatory support. The disease course varies even among individuals within the same family: some remain ambulant until their 70s whereas others may require ventilator support in their 40s.
From GHR
Hereditary myopathy with early respiratory failure (HMERF) is an inherited muscle disease that predominantly affects muscles close to the center of the body (proximal muscles) and muscles that are needed for breathing.The major signs and symptoms of HMERF usually appear in adulthood, on average around age 35. Among the earliest muscles affected in HMERF are the neck flexors, which are muscles at the front of the neck that help hold the head up. Other proximal muscles that become weak in people with HMERF include those of the hips, thighs, and upper arms. Some affected individuals have also reported weakness in muscles of the lower leg and foot called the dorsal foot extensors.HMERF also causes severe weakness in muscles of the chest that are involved in breathing, particularly the diaphragm. This weakness leads to breathing problems and life-threatening respiratory failure.  https://ghr.nlm.nih.gov/condition/hereditary-myopathy-with-early-respiratory-failure

Clinical features

Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Neck flexor weakness
MedGen UID:
334801
Concept ID:
C1843637
Finding
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
Foot dorsiflexor weakness
MedGen UID:
356163
Concept ID:
C1866141
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Diaphragmatic weakness
MedGen UID:
892391
Concept ID:
C4020786
Finding
A decrease in the strength of the diaphragm.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary myopathy with early respiratory failure
Follow this link to review classifications for Hereditary myopathy with early respiratory failure in Orphanet.

Recent clinical studies

Etiology

Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, Straub V, Chinnery PF
Neurology 2016 Sep 6;87(10):1031-5. Epub 2016 Aug 10 doi: 10.1212/WNL.0000000000003064. PMID: 27511179Free PMC Article
Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF
Neuromuscul Disord 2014 Mar;24(3):241-4. Epub 2013 Dec 11 doi: 10.1016/j.nmd.2013.12.001. PMID: 24444549Free PMC Article
Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y
J Hum Genet 2013 May;58(5):259-66. Epub 2013 Feb 28 doi: 10.1038/jhg.2013.9. PMID: 23446887
Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A
Brain 2012 Jun;135(Pt 6):1682-94. Epub 2012 May 9 doi: 10.1093/brain/aws103. PMID: 22577218
Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF
Brain 2012 Jun;135(Pt 6):1695-713. Epub 2012 May 9 doi: 10.1093/brain/aws102. PMID: 22577215Free PMC Article

Diagnosis

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. PMID: 25253871
Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):345-53. Epub 2013 Apr 19 doi: 10.1136/jnnp-2013-304965. PMID: 23606733
Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG
BMC Neurol 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29. PMID: 23514108Free PMC Article
Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y
J Hum Genet 2013 May;58(5):259-66. Epub 2013 Feb 28 doi: 10.1038/jhg.2013.9. PMID: 23446887
Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL, Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E
Neuromuscul Disord 2010 Nov;20(11):730-4. Epub 2010 Aug 13 doi: 10.1016/j.nmd.2010.07.269. PMID: 20708934

Prognosis

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. PMID: 25253871
Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y
J Hum Genet 2013 May;58(5):259-66. Epub 2013 Feb 28 doi: 10.1038/jhg.2013.9. PMID: 23446887
Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A
Brain 2012 Jun;135(Pt 6):1682-94. Epub 2012 May 9 doi: 10.1093/brain/aws103. PMID: 22577218

Clinical prediction guides

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2015 May;86(5):483-9. Epub 2014 Sep 24 doi: 10.1136/jnnp-2014-309009. PMID: 25253871
Palmio J, Evilä A, Chapon F, Tasca G, Xiang F, Brådvik B, Eymard B, Echaniz-Laguna A, Laporte J, Kärppä M, Mahjneh I, Quinlivan R, Laforêt P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Gölitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schröder R, Edström L, Oldfors A, Hackman P, Udd B
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):345-53. Epub 2013 Apr 19 doi: 10.1136/jnnp-2013-304965. PMID: 23606733

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