Congestive heart failure, and Facial palsy

Diseases related with Congestive heart failure and Facial palsy

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Facial palsy that can help you solving undiagnosed cases.


Top matches:

Medium match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

Medium match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP 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 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C


Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C Is also known as severe childhood autosomal recessive muscular dystrophy, north african type|dmda|lgmd2c|muscular dystrophy, limb-girdle, type 2c|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|duchenne-like muscular dystrophy, autosomal recessive, type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2C

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR 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 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Facial palsy

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Cardiomyopathy Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Facial palsy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Respiratory insufficiency

Uncommon Symptoms - Between 30% and 50% cases


Motor delay

Common Symptoms - More than 50% cases


Respiratory insufficiency due to muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


EMG: myopathic abnormalities

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Difficulty climbing stairs Hyperlordosis Dilated cardiomyopathy Increased variability in muscle fiber diameter Waddling gait Difficulty running High palate Respiratory failure Muscular dystrophy Arrhythmia Centrally nucleated skeletal muscle fibers Long face Skeletal muscle atrophy Neonatal hypotonia Arthrogryposis multiplex congenita Gowers sign Distal muscle weakness Generalized amyotrophy Limb muscle weakness Elevated serum creatine phosphokinase Spinal rigidity Neck muscle weakness Dyspnea Progressive muscle weakness Frequent falls Facial diplegia Knee flexion contracture Congenital muscular dystrophy Myopathic facies Intellectual disability Diarrhea Hyporeflexia Pneumonia Dysphagia Respiratory distress Kyphosis Pes cavus Retrognathia Ptosis Scapular winging Bulbar palsy Easy fatigability Pectus excavatum Nasal speech Hypertrophic cardiomyopathy Lumbar hyperlordosis

Rare Symptoms - Less than 30% cases


Right ventricular cardiomyopathy Feeding difficulties in infancy Muscle fiber necrosis Ophthalmoplegia Neck flexor weakness Akinesia Restrictive deficit on pulmonary function testing External ophthalmoplegia Right ventricular hypertrophy Progressive proximal muscle weakness Mildly elevated creatine phosphokinase Dysphonia Areflexia Abnormal levels of creatine kinase in blood Delayed speech and language development Muscular hypotonia Congenital contracture Hyporeflexia of lower limbs Hypertonia Feeding difficulties Skeletal myopathy Right bundle branch block Falls Decreased fetal movement Slender build Atrioventricular block Narrow face Muscle stiffness Ventricular tachycardia Nemaline bodies Limb-girdle muscular dystrophy Atrial fibrillation Axial muscle weakness Sudden cardiac death Failure to thrive Rigidity Apnea Calf muscle hypertrophy Cough Lower limb muscle weakness Ventricular hypertrophy Poor head control Elbow flexion contracture Increased endomysial connective tissue Hip contracture Hypoventilation Constipation Late-onset proximal muscle weakness Restrictive heart failure Edema Pes planus Type 1 muscle fiber predominance Minicore myopathy Respiratory arrest Hypergonadotropic hypogonadism Ragged-red muscle fibers Reduced vital capacity Primary amenorrhea Chronic kidney disease Exercise intolerance Type 1 and type 2 muscle fiber minicore regions Peroneal muscle atrophy Hamstring contractures Cardiac conduction abnormality Abnormality of skeletal morphology Microcephaly Cerebellar atrophy Limited neck flexion Renal insufficiency Recurrent infections Nocturnal hypoventilation Crackles Cerebellar hypoplasia Hypogonadism Stage 5 chronic kidney disease Abnormality on pulmonary function testing Amenorrhea Orthopnea Nausea Joint contracture of the hand Progressive external ophthalmoplegia Abnormality of the skeletal system Diaphragmatic paralysis Restrictive cardiomyopathy Myofibrillar myopathy Intestinal pseudo-obstruction Sick sinus syndrome Breech presentation Third degree atrioventricular block Fetal akinesia sequence Pica Hyperreflexia EMG: neuropathic changes Ventricular extrasystoles Thin ribs Mask-like facies Recurrent respiratory infections Polyhydramnios Myotonia Infantile muscular hypotonia Respiratory tract infection Foot dorsiflexor weakness Paralysis Genu valgum Atrial flutter Heart block Proximal amyotrophy Paresthesia Spinal deformities Pain Cataract Peripheral neuropathy Percussion myotonia Pulmonary hypoplasia Gait disturbance Dilatation Myalgia Joint stiffness Vertigo Fetal distress Tachycardia Chest pain Syncope Myocardial infarction Palpitations Tricuspid regurgitation Bundle branch block Hypokinesia Cor pulmonale Rimmed vacuoles Abnormality of the rib cage Decreased muscle mass Thoracolumbar scoliosis Macroglossia Radioulnar synostosis Ankle contracture Cleft soft palate Left ventricular noncompaction Mitochondrial depletion Unsteady gait Inability to walk Broad-based gait Hip dislocation Skeletal muscle hypertrophy Restrictive ventilatory defect Upper limb muscle weakness Achilles tendon contracture Left ventricular failure Muscle fiber atrophy Tip-toe gait Webbed neck Abnormal cardiac septum morphology Right ventricular dilatation Aortic root aneurysm Left bundle branch block Left anterior fascicular block Trifascicular block Mitral valve prolapse Reduced tendon reflexes Toe walking Thoracic scoliosis Lower limb amyotrophy Atrial septal defect Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Hypertelorism Ventricular septal defect Calf muscle pseudohypertrophy Left ventricular systolic dysfunction Malignant hyperthermia Abnormal heart valve morphology Protruding ear Bifid uvula Left ventricular hypertrophy Bilateral ptosis Ophthalmoparesis Long fingers Exertional dyspnea EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Narrow mouth Global developmental delay Short stature Hypertension Hepatomegaly Fever Abnormality of the cerebral white matter High pitched voice Difficulty walking Intellectual disability, mild Abnormal macrophage morphology Sensory impairment EMG: myotonic runs EMG: positive sharp waves EMG: myotonic discharges Absent muscle fiber gamma sarcoglycan Reduced muscle fiber alpha sarcoglycan Pectus carinatum Narrow chest Open mouth Talipes equinovarus Thoracic kyphosis Distal lower limb amyotrophy Distal lower limb muscle weakness Myokymia Shoulder girdle muscle atrophy Abnormal facial shape Cognitive impairment Dysarthria Late-onset distal muscle weakness



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