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Tibial muscular dystrophy(TMD)

MedGen UID:
333047
Concept ID:
C1838244
Disease or Syndrome
Synonyms: Distal myopathy Markesbery-Griggs type; Tibial muscular dystrophy, tardive; TMD; Udd Distal Myopathy; UDD Myopathy
SNOMED CT: Tardive tibial muscular dystrophy (698846009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): TTN (2q31.2)
 
Monarch Initiative: MONDO:0010870
OMIM®: 600334
Orphanet: ORPHA609

Disease characteristics

Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels after age 30 years. Disease progression is slow and muscle weakness remains confined to the anterior compartment muscles for many years. The long toe extensors become clinically involved after ten to 20 years, leading to foot drop and clumsiness when walking. In the mildest form, UDM-TMD can remain unnoticed even in the elderly. EMG shows profound myopathic changes in the anterior tibial muscle, but preservation of the extensor brevis muscle. Muscle MRI shows selective fatty degeneration of the anterior tibial muscles and other anterior compartment muscles of the lower legs. Serum CK concentration may be normal or slightly elevated. Muscle biopsy shows progressive dystrophic changes in the tibialis anterior muscle with rimmed vacuoles at the early stages and replacement with adipose tissue at later stages of the disease. [from GeneReviews]
Authors:
Bjarne Udd  |  Peter Hackman   view full author information

Additional description

From GHR
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking.Muscle weakness worsens very slowly in people with tibial muscular dystrophy. Ten to 20 years after the onset of symptoms, weakness may develop in muscles that help extend the toes (long-toe extensors). Weakness in these muscles makes it difficult to lift the toes while walking, a condition known as foot drop. Later in life, about one third of people with tibial muscular dystrophy experience mild to moderate difficulty with walking because of weakness in other leg muscles. However, most affected individuals remain able to walk throughout their lives.A small percentage of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those described above. Starting in childhood, these individuals may have generalized muscle weakness, weakness and atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and weakness affecting muscles in the arms.  https://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy

Clinical features

From HPO
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.
Steppage gait
MedGen UID:
98105
Concept ID:
C0427149
Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
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.
EMG: myopathic abnormalities
MedGen UID:
867362
Concept ID:
C4021726
Pathologic Function
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
The following clinical feature is unrelated to Tibial muscular dystrophy

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTibial muscular dystrophy
Follow this link to review classifications for Tibial muscular dystrophy in Orphanet.

Recent clinical studies

Etiology

Misaka T, Yoshihisa A, Takeishi Y
Clin Chim Acta 2019 Aug;495:123-128. Epub 2019 Apr 5 doi: 10.1016/j.cca.2019.04.005. PMID: 30959043
Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B
Duodecim 2016;132(18):1635-44. PMID: 29188941
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415
Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L
Am J Hum Genet 1998 Mar;62(3):620-6. doi: 10.1086/301752. PMID: 9497249Free PMC Article
Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V
Arch Neurol 1993 Jun;50(6):604-8. doi: 10.1001/archneur.1993.00540060044015. PMID: 8503797

Diagnosis

Misaka T, Yoshihisa A, Takeishi Y
Clin Chim Acta 2019 Aug;495:123-128. Epub 2019 Apr 5 doi: 10.1016/j.cca.2019.04.005. PMID: 30959043
Pardal-Fernández JM, Jerez-García P, Rallo-Gutiérrez B, Puentes-Gil JM, Godes-Medrano B, Marco-Giner J
Electromyogr Clin Neurophysiol 2005 Jul-Aug;45(5):285-90. PMID: 16218196
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415
de Seze J, Udd B, Haravuori H, Sablonnière B, Maurage CA, Hurtevent JF, Boutry N, Stojkovic T, Schraen S, Petit H, Vermersch P
Neurology 1998 Dec;51(6):1746-8. doi: 10.1212/wnl.51.6.1746. PMID: 9855539
Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V
Arch Neurol 1993 Jun;50(6):604-8. doi: 10.1001/archneur.1993.00540060044015. PMID: 8503797

Prognosis

Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B
J Neurol Neurosurg Psychiatry 2010 Nov;81(11):1200-2. Epub 2010 Jun 22 doi: 10.1136/jnnp.2009.178434. PMID: 20571043
Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B
J Neurol 2010 Apr;257(4):575-9. Epub 2009 Nov 13 doi: 10.1007/s00415-009-5372-3. PMID: 19911250
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415

Clinical prediction guides

Lin YF, Xiao MH, Chen HX, Meng Y, Zhao N, Yang L, Tang H, Wang JL, Liu X, Zhu Y, Zhuang SM
Cell Death Dis 2019 Jul 11;10(7):528. doi: 10.1038/s41419-019-1767-y. PMID: 31296841Free PMC Article
Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R
Neuromuscul Disord 2014 Mar;24(3):227-40. Epub 2013 Nov 15 doi: 10.1016/j.nmd.2013.11.001. PMID: 24332166Free PMC Article
Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B
J Neurol 2010 Apr;257(4):575-9. Epub 2009 Nov 13 doi: 10.1007/s00415-009-5372-3. PMID: 19911250
Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L
Am J Hum Genet 1998 Mar;62(3):620-6. doi: 10.1086/301752. PMID: 9497249Free PMC Article

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