ACTA1 gene related symptoms and diseases

All the information presented here about the ACTA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ACTA1 gene

Symptoms // Phenotype	% Cases
Waddling gait	Common - Between 50% and 80% cases
Facial palsy	Common - Between 50% and 80% cases
Nemaline bodies	Common - Between 50% and 80% cases
Flexion contracture	Common - Between 50% and 80% cases
Myopathy	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ACTA1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Polyhydramnios
Decreased fetal movement
Arthrogryposis multiplex congenita
High palate
Scoliosis
Motor delay
Hyporeflexia
Not very common - Between 30% and 50% cases
EMG: myopathic abnormalities

And 198 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ACTA1 gene

Here you will find a list of rare diseases related to the ACTA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Alternate names

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Description

Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Intellectual disability
Short stature
Failure to thrive
Micrognathia
Muscular hypotonia

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

SOURCES: ORPHANET

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Alternate names

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm, fiber-type disproportion myopathy, congenital

Description

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

Most common symptoms of MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Intellectual disability
Global developmental delay
Generalized hypotonia
Scoliosis
Growth delay

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

SOURCES: OMIM

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Alternate names

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Description

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Most common symptoms of CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Generalized hypotonia
Scoliosis
Failure to thrive
Muscle weakness
Flexion contracture

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

SOURCES: MESH ORPHANET OMIM

RIGID SPINE SYNDROME

Alternate names

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form, mdrs1, desmin-related myopathy with mallory bodies, multiminicore disease, severe classic form, myopathy, sepn1-related, rigid spine syndrome, muscular dystrophy, congenital, eichsfeld type, rigid spine congenital muscular

Description

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

Most common symptoms of RIGID SPINE SYNDROME

Global developmental delay
Short stature
Generalized hypotonia
Scoliosis
Failure to thrive

More info about RIGID SPINE SYNDROME

SOURCES: OMIM ORPHANET

CHILDHOOD-ONSET NEMALINE MYOPATHY

Alternate names

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Description

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

Most common symptoms of CHILDHOOD-ONSET NEMALINE MYOPATHY

Generalized hypotonia
Scoliosis
Hypertelorism
Micrognathia
Ptosis

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

SOURCES: ORPHANET

SEVERE CONGENITAL NEMALINE MYOPATHY

Description

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Most common symptoms of SEVERE CONGENITAL NEMALINE MYOPATHY

Low-set ears
Flexion contracture
Motor delay
Skeletal muscle atrophy
Dysphagia

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

SOURCES: ORPHANET

TYPICAL NEMALINE MYOPATHY

Description

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.

Most common symptoms of TYPICAL NEMALINE MYOPATHY

Scoliosis
Micrognathia
Ptosis
Flexion contracture
High palate

More info about TYPICAL NEMALINE MYOPATHY

SOURCES: ORPHANET

INTERMEDIATE NEMALINE MYOPATHY

Description

Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Most common symptoms of INTERMEDIATE NEMALINE MYOPATHY

Hypertelorism
Low-set ears
Flexion contracture
Motor delay
Skeletal muscle atrophy

More info about INTERMEDIATE NEMALINE MYOPATHY

SOURCES: ORPHANET

PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

Description

Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).

Most common symptoms of PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

Generalized hypotonia
Scoliosis
Muscle weakness
Gait disturbance
Myopathy

More info about PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

SOURCES: OMIM ORPHANET

ZEBRA BODY MYOPATHY

Description

Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Most common symptoms of ZEBRA BODY MYOPATHY

Global developmental delay
Elevated serum creatine phosphokinase
Neonatal hypotonia
Proximal muscle weakness
Facial palsy

More info about ZEBRA BODY MYOPATHY

SOURCES: ORPHANET

Search interest in ACTA1

Potential gene panels for ACTA1 gene

Congenital Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32

ACTA1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ACTA1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to ACTA1 gene

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Alternate names

Description

Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Alternate names

Description

Most common symptoms of MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Alternate names

Description

Most common symptoms of CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

RIGID SPINE SYNDROME

Alternate names

Description

Most common symptoms of RIGID SPINE SYNDROME

CHILDHOOD-ONSET NEMALINE MYOPATHY

Alternate names

Description

Most common symptoms of CHILDHOOD-ONSET NEMALINE MYOPATHY

SEVERE CONGENITAL NEMALINE MYOPATHY

Description

Most common symptoms of SEVERE CONGENITAL NEMALINE MYOPATHY

TYPICAL NEMALINE MYOPATHY

Description

Most common symptoms of TYPICAL NEMALINE MYOPATHY

INTERMEDIATE NEMALINE MYOPATHY

Description

Most common symptoms of INTERMEDIATE NEMALINE MYOPATHY

PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

Description

Most common symptoms of PROGRESSIVE SCAPULOHUMEROPERONEAL DISTAL MYOPATHY

ZEBRA BODY MYOPATHY

Description

Most common symptoms of ZEBRA BODY MYOPATHY

Search interest in ACTA1

Potential gene panels for ACTA1 gene

Congenital Myopathy Advanced Sequencing Evaluation Panel

Neuromuscular Disorders Panel Panel

Congenital Contractures Panel Panel

Comprehensive Neuromuscular Panel Panel

Congenital Muscular Myopathy Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Myopathy Sequencing Panel Panel

Congenital Myopathy Deletion/Duplication Panel Panel

Nemaline Myopathy Sequencing Panel Panel

Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel Panel

Nemaline Myopathy 3 Panel

ACTA1 Gene Sequencing Panel

ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS Panel

ACTA1. Complete sequencing Panel

ACTA1. Complete sequencing Panel

Nemaline myopathy 3 (sequence analysis of ACTA1 gene) Panel

Congenital myopathy (NGS panel of 19 genes) Panel

Congenital myopathy (NGS panel of 19 genes) Panel

Congenital Myopathy Sequencing Panel Panel

Nemaline Myopathy Sequencing Panel with CNV Detection Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

?-Actin (Skeletal Muscle Form)-Related Myopathy via ACTA1 Gene Sequencing with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

Myofibrillar myopathy and related disorders NGS panel Panel

Myofibrillar myopathy and related disorders Comprehensive panel Panel

Myofibrillar myopathy and related disorders Deletion / Duplication panel Panel

ACTA1-Related Nemaline Myopathy Panel

ACTA1-Related Congenital Fiber-Type Disproportion Panel

Cardiomyopathy Panel

Hypertrophic cardiomyopathy - different panels Panel

ACTA1-Related Congenital Fiber-Type Disproportion Panel

ACTA1-Related Nemaline Myopathy Panel

Heart Diseases - panels Panel

Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel

Myotonia Panel

Newborn: “Floppy Infant “ Panel

Muscle Disease with Contractures and/or Rigid Spine Panel