Cardiomyopathy, and Arthrogryposis multiplex congenita

Diseases related with Cardiomyopathy and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.


Top matches:

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2


Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

Medium match INTERMEDIATE NEMALINE MYOPATHY


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.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

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Other less relevant matches:

Medium match SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1


Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match CHILDHOOD-ONSET NEMALINE MYOPATHY


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.

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

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Medium match RIGID SPINE SYNDROME


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.

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


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).

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

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11


COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Hyporeflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Decreased fetal movement

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Facial palsy

Common Symptoms - More than 50% cases


Polyhydramnios

Uncommon Symptoms - Between 30% and 50% cases


Respiratory failure

Common Symptoms - More than 50% cases


Skeletal muscle atrophy

Uncommon Symptoms - Between 30% and 50% cases


Neonatal hypotonia Generalized muscle weakness Scoliosis Respiratory insufficiency Myopathic facies Congestive heart failure Global developmental delay Feeding difficulties Spinal rigidity High palate Limb muscle weakness Hypertelorism Waddling gait Muscular dystrophy Nemaline bodies Fetal akinesia sequence Proximal muscle weakness Failure to thrive Dilated cardiomyopathy Edema Type 1 muscle fiber predominance Hyperlordosis Hepatomegaly Hypertension Increased variability in muscle fiber diameter Peripheral neuropathy Minicore myopathy Severe muscular hypotonia Facial diplegia Difficulty walking Congenital contracture Dysphagia Akinesia Breech presentation EMG: myopathic abnormalities Hypoventilation

Rare Symptoms - Less than 30% cases


Respiratory distress Pulmonary hypoplasia Cough Generalized amyotrophy Rigidity Muscular hypotonia Reduced vital capacity Talipes equinovarus Apnea Neck muscle weakness Slender build Hypertrophic cardiomyopathy Mildly elevated creatine phosphokinase Decreased liver function Respiratory insufficiency due to muscle weakness Exercise intolerance Limb-girdle muscular dystrophy Narrow face Seizures Pes cavus Generalized limb muscle atrophy Malignant hyperthermia Micrognathia Fever Multiple prenatal fractures Limb joint contracture Abnormal cardiac septum morphology Premature birth Hip dislocation Knee flexion contracture Ptosis Difficulty climbing stairs Centrally nucleated skeletal muscle fibers Congenital muscular dystrophy Ventricular septal defect Abnormality of the rib cage Respiratory tract infection Pectus excavatum Recurrent respiratory infections Retrognathia Hip contracture Feeding difficulties in infancy High pitched voice Paralysis Abnormality of the skeletal system Genu valgum Falls Frequent falls Joint contracture of the hand Foot dorsiflexor weakness Infantile muscular hypotonia Myotonia Hypertonia Hyperreflexia Axial muscle weakness Hamstring contractures Respiratory arrest Peroneal muscle atrophy Muscle fiber necrosis Restrictive deficit on pulmonary function testing Nocturnal hypoventilation Orthopnea Crackles Limited neck flexion Myopia Cor pulmonale Right ventricular hypertrophy Abnormality of skeletal morphology Thoracolumbar scoliosis Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Cardiac conduction abnormality Mitochondrial depletion EMG: neuropathic changes Mask-like facies Renal dysplasia Lactic acidosis Hepatic steatosis Renal cyst Delayed myelination Increased serum lactate Epileptic encephalopathy Renal hypoplasia Pachygyria Fasciculations Lethargy CNS hypomyelination Chronic kidney disease Failure to thrive in infancy Hyponatremia Hyperkalemia Renal tubular acidosis Increased CSF lactate Tongue fasciculations Abnormality of the foot Acidosis Bulbar palsy Hearing impairment Thin ribs Nasal speech Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Late-onset distal muscle weakness Intellectual disability Microcephaly Cerebral cortical atrophy Anemia Short neck Hypoplasia of the corpus callosum Renal insufficiency Cerebral atrophy Absent speech Encephalopathy Myoclonus Gowers sign Hydronephrosis Poor head control Sudden cardiac death Hepatosplenomegaly Radioulnar synostosis Abnormality of the liver Webbed neck Cirrhosis Hepatic failure Ascites Hydrops fetalis Calf muscle hypertrophy Hepatic fibrosis Elevated serum creatine phosphokinase Reduced tendon reflexes Portal hypertension Arrhythmia Exertional dyspnea Esophageal varix Generalized edema Dyspnea Difficulty running Atrial septal defect Microretrognathia Abnormal levels of creatine kinase in blood Patent ductus arteriosus Narrow mouth Peripheral axonal neuropathy Left ventricular noncompaction Oligohydramnios Hypohidrosis Patent foramen ovale Fractures of the long bones Spinal muscular atrophy Neonatal respiratory distress Cleft soft palate Ankle contracture Axonal loss Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Tubulointerstitial fibrosis Cleft palate Elbow flexion contracture Increased muscle lipid content Low-set ears Degenerative vitreoretinopathy Multiple pterygia Bulbar signs Vitreoretinopathy Poor fine motor coordination Pterygium Fatigable weakness of bulbar muscles Muscle stiffness Neuromuscular dysphagia Short stature Pneumonia High myopia Increased endomysial connective tissue Abnormality of the cerebral white matter Ventricular hypertrophy Progressive muscle weakness Scapular winging Long philtrum Cognitive impairment Congenital hip dislocation Intrauterine growth retardation Fatigue Kyphoscoliosis Pes planus Hypokinesia Talipes Muscle cramps Ophthalmoparesis Clumsiness Abnormality of the thorax Skeletal myopathy High, narrow palate Stooped posture Ophthalmoplegia Narrow chest Long face Bradykinesia Microvesicular hepatic steatosis



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