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Distal myopathy with posterior leg and anterior hand involvement(MPD4)

MedGen UID:
481352
Concept ID:
C3279722
Disease or Syndrome
Synonyms: Myopathy, distal, 4; WILLIAMS DISTAL MYOPATHY
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): FLNC (7q32.1)
 
Monarch Initiative: MONDO:0013550
OMIM®: 614065
Orphanet: ORPHA63273

Definition

Williams distal myopathy is an autosomal dominant slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows nonspecific changes with no evidence of rods, necrosis, or inflammation (summary by Duff et al., 2011). Mutation in the FLNC gene can also cause myofibrillar myopathy-5 (MFM5; 609524), which shows a different pattern of muscle involvement and different histologic changes. [from OMIM]

Clinical features

From HPO
Thenar muscle weakness
MedGen UID:
330427
Concept ID:
C1832276
Finding
Abnormal calf musculature morphology
MedGen UID:
867409
Concept ID:
C4021779
Anatomical Abnormality
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Distal lower limb amyotrophy
MedGen UID:
324515
Concept ID:
C1836451
Disease or Syndrome
Muscular atrophy of distal leg muscles.
Distal upper limb amyotrophy
MedGen UID:
867223
Concept ID:
C4021581
Disease or Syndrome
Muscular atrophy of distal arm muscles.
Mildly elevated creatine kinase
MedGen UID:
342469
Concept ID:
C1850309
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDistal myopathy with posterior leg and anterior hand involvement
Follow this link to review classifications for Distal myopathy with posterior leg and anterior hand involvement in Orphanet.

Recent clinical studies

Diagnosis

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW
Hum Mutat 2011 Jun;32(6):669-77. Epub 2011 Apr 7 doi: 10.1002/humu.21488. PMID: 21480433Free PMC Article
Mahjneh I, Haravuori H, Paetau A, Anderson LV, Saarinen A, Udd B, Somer H
Neurology 2003 Jul 8;61(1):87-92. doi: 10.1212/01.wnl.0000073618.91577.e8. PMID: 12847162

Clinical prediction guides

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW
Hum Mutat 2011 Jun;32(6):669-77. Epub 2011 Apr 7 doi: 10.1002/humu.21488. PMID: 21480433Free PMC Article

Supplemental Content

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