Distal myopathy with posterior leg and anterior hand involvement

General Information (adopted from Orphanet):

Synonyms, Signs: WILLIAMS DISTAL MYOPATHY
MPD4
Distal ABD-filaminopathy
Number of Symptoms 30
OrphanetNr: 63273
OMIM Id: 614065
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001265) Hyporeflexia 208 / 7739
2
 (HPO:0007149) Distal upper limb amyotrophy 4 / 7739
3
 (HPO:0001430) Abnormality of the calf musculature 1 / 7739
4
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
5
 (HPO:0001638) Cardiomyopathy 192 / 7739
6
 (HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
7
 (HPO:0003198) Myopathy 151 / 7739
8
 (HPO:0008944) Distal lower limb amyotrophy 12 / 7739
9
 (HPO:0001324) Muscle weakness 859 / 7739
10
 (OMIM) Decreased ability to run 1 / 7739
11
 (OMIM) Distal lower and upper limb muscle atrophy 3 / 7739
12
 (OMIM) Sparing of the anterior tibial compartment 1 / 7739
13
 (OMIM) No rods 1 / 7739
14
 (OMIM) Calf muscle weakness 2 / 7739
15
 (OMIM) Type 1 fiber predominance 9 / 7739
16
 (OMIM) Weakness of ankle plantar flexion 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Normal or mildly increased serum creatine kinase 6 / 7739
19
 (OMIM) No necrosis 1 / 7739
20
 (OMIM) Muscle biopsy shows variation in fiber size 1 / 7739
21
 (OMIM) No dystrophic changes 1 / 7739
22
 (HPO:0003677) Slow progression 134 / 7739
23
 (OMIM) Imaging shows muscle atrophy and fatty replacement 1 / 7739
24
 (OMIM) Weakness of hip flexors 1 / 7739
25
 (OMIM) Distal muscle weakness, upper and lower limbs 4 / 7739
26
 (OMIM) Progression to proximal muscle weakness 1 / 7739
27
 (OMIM) Hyporeflexia in the lower limbs 1 / 7739
28
 (OMIM) Forearm muscle weakness 1 / 7739
29
 (OMIM) Inability to jump or squat 1 / 7739
30
 (OMIM) Decreased hand grip strength 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Williams et al. (2005) reported an Australian family in which at least 12 members had adult onset of a slowly progressive myopathy first affecting the distal muscles of the hand and leg. Patients reported insidious onset of muscle ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of the Australian family with distal myopathy previously reported by Williams et al. (2005), Duff et al. (2011) identified a heterozygous mutation in the FLNC gene (M251T; 102565.0003). A different ...