Congestive heart failure, and Distal muscle weakness

Diseases related with Congestive heart failure and Distal muscle weakness

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Distal muscle weakness 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 NEUTRAL LIPID STORAGE MYOPATHY


Neutral lipid storage disease with myopathy is an autosomal recessive muscle disorder characterized by adult onset of slowly progressive proximal muscle weakness affecting the upper and lower limbs and associated with increased serum creatine kinase; distal muscle weakness may also occur. About half of patients develop cardiomyopathy later in the disease course. Other variable features include diabetes mellitus, hepatic steatosis, hypertriglyceridemia, and possibly sensorineural hearing loss. Leukocytes and muscle cells show cytoplasmic accumulation of triglycerides (summary by Reilich et al., 2011).Neutral lipid storage disease with myopathy belongs to a group of disorders termed neutral lipid storage disorders (NLSDs). These disorders are characterized by the presence of triglyceride-containing cytoplasmic droplets in leukocytes and in other tissues, including bone marrow, skin, and muscle. Chanarin-Dorfman syndrome (CDS ) is defined as NLSD with ichthyosis (NLSDI). Patients with NLSDM present with myopathy but without ichthyosis (summary by Fischer et al., 2007).

NEUTRAL LIPID STORAGE MYOPATHY Is also known as neutral lipid storage disease with myopathy without ichthyosis|nlsdm|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTRAL LIPID STORAGE MYOPATHY

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

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Other less relevant matches:

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

Low match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD


The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS ), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003).Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003).See also isolated LCHAD deficiency (OMIM ), which is caused by mutation in the HADHA gene.

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD Is also known as trifunctional protein deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD

Low 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

Low match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Low 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 Distal muscle weakness

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
Myopathy Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Distal muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dilated cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Progressive muscle weakness Elevated serum creatine phosphokinase Areflexia Scoliosis Generalized hypotonia Myalgia Generalized muscle weakness EMG: myopathic abnormalities Facial palsy Respiratory insufficiency due to muscle weakness Arrhythmia Skeletal muscle atrophy Flexion contracture Pain Motor delay Dysphagia Pes cavus Respiratory distress Neck muscle weakness Waddling gait Respiratory failure Peripheral neuropathy Facial diplegia Muscular dystrophy Limb muscle weakness Difficulty climbing stairs Increased variability in muscle fiber diameter Difficulty running Muscular hypotonia Cognitive impairment Feeding difficulties Hyporeflexia Hyperlordosis Retrognathia Sensory impairment Feeding difficulties in infancy Dyspnea High palate Centrally nucleated skeletal muscle fibers Skeletal myopathy Failure to thrive Elevated hepatic transaminase Difficulty walking Bulbar palsy Hypertrophic cardiomyopathy Sudden cardiac death

Rare Symptoms - Less than 30% cases


Hyperammonemia Type 1 muscle fiber predominance Congenital contracture Scapular winging Myotonia Rhabdomyolysis Myoglobinuria Hypoketotic hypoglycemia Cataract Neonatal hypotonia Dysarthria Infantile muscular hypotonia Abnormality of the amniotic fluid Ptosis Intellectual disability Slender build Neck flexor weakness Nemaline bodies Recurrent myoglobinuria Delayed speech and language development Pigmentary retinopathy Hydrops fetalis Mildly elevated creatine phosphokinase Respiratory tract infection Lower limb muscle weakness Tachycardia Diarrhea Palpitations Distal sensory impairment Akinesia Recurrent respiratory infections Peripheral axonal neuropathy Dilatation Tricuspid regurgitation Edema Hypoglycemia Apnea Abnormality of the liver Small for gestational age Lethargy Spinal rigidity Lactic acidosis Tremor Muscle cramps Hypercholesterolemia Prenatal maternal abnormality Long face Gowers sign Easy fatigability Arthrogryposis multiplex congenita Diabetes mellitus Hearing impairment Hepatic steatosis Restrictive heart failure Late-onset proximal muscle weakness Pectus excavatum Falls Decreased fetal movement Hypertonia Exercise intolerance Hyporeflexia of lower limbs Right ventricular cardiomyopathy Constipation Myopathic facies Atrial fibrillation Ventricular tachycardia Atrioventricular block Knee flexion contracture Right bundle branch block Muscle stiffness Narrow face Frequent falls Kyphosis Progressive proximal muscle weakness Decreased nerve conduction velocity Tachypnea Joint contracture of the hand Hypersomnia Hypoparathyroidism Progressive peripheral neuropathy Exercise-induced rhabdomyolysis Acute hepatic steatosis Respiratory failure requiring assisted ventilation Gait disturbance Pulmonary hypoplasia Pneumonia Cardiac arrest Renal insufficiency Decreased liver function Thin ribs Percussion myotonia Ventriculomegaly Fetal distress Diaphragmatic paralysis Breech presentation Fetal akinesia sequence EMG: neuropathic changes Hypoventilation Vomiting Hypotension Genu valgum Mask-like facies Foot dorsiflexor weakness Acidosis Retinopathy Hepatic failure Metabolic acidosis Coma Joint stiffness Paralysis Cough Epiphora Hypertension Hypogonadism Mental deterioration Infertility Confusion Decreased antibody level in blood Iridescent posterior subcapsular cataract Spontaneous abortion Leukoencephalopathy Neurofibrillary tangles Third degree atrioventricular block IgG deficiency Oligospermia Insulin insensitivity Diffuse leukoencephalopathy Male hypogonadism Elevated circulating follicle stimulating hormone level Global developmental delay Frontal balding Arteriosclerosis Pica Sick sinus syndrome Paresthesia Bundle branch block Vertigo Chest pain Syncope Ventricular hypertrophy Myocardial infarction Type 2 muscle fiber atrophy Elbow flexion contracture Limb-girdle muscular dystrophy Rigidity Polyhydramnios Hyperreflexia Hypokinesia Rimmed vacuoles Heart block Abnormality of the skeletal system Ventricular extrasystoles Atrial flutter Restrictive cardiomyopathy Myofibrillar myopathy Intestinal pseudo-obstruction IgM deficiency Progressive cerebellar ataxia Seizures Ophthalmoplegia Distal lower limb amyotrophy Distal lower limb muscle weakness Myokymia Shoulder girdle muscle atrophy Abnormal facial shape Talipes equinovarus Intellectual disability, mild Narrow mouth Protruding ear Bifid uvula Decreased muscle mass Left ventricular hypertrophy External ophthalmoplegia Dysphonia Bilateral ptosis Ophthalmoparesis Generalized amyotrophy Long fingers Exertional dyspnea Abnormal heart valve morphology Hip contracture Thoracic kyphosis Congenital muscular dystrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Obesity Left bundle branch block Abnormal levels of creatine kinase in blood Left anterior fascicular block Trifascicular block Short stature Sensorineural hearing impairment Hepatomegaly Fatigue Recurrent infections Ichthyosis Open mouth Hypertriglyceridemia Insulin resistance Fasciculations Hyperlipidemia Psoriasiform dermatitis Increased muscle lipid content Pes planus Pectus carinatum Narrow chest Lumbar hyperlordosis Axial muscle weakness Ataxia Cholestasis Head tremor Postural tremor Decreased motor nerve conduction velocity Sensory axonal neuropathy Increased antibody level in blood Gaze-evoked nystagmus Cerebellar vermis atrophy Urinary bladder sphincter dysfunction Progressive gait ataxia Impaired smooth pursuit Impaired proprioception Hypoalbuminemia Gait imbalance Decreased number of large peripheral myelinated nerve fibers Saccadic smooth pursuit Conjunctival telangiectasia Pontocerebellar atrophy Elevated alpha-fetoprotein Impaired distal vibration sensation Diffuse cerebellar atrophy Chronic axonal neuropathy Impaired distal tactile sensation Premature ovarian insufficiency Slurred speech Nystagmus Neurodegeneration Strabismus Cerebellar atrophy Dystonia Babinski sign Gait ataxia Abnormal pyramidal sign Abnormality of the foot Distal amyotrophy Sensory neuropathy Polyneuropathy Oculomotor apraxia Chorea Peripheral demyelination Abnormality of extrapyramidal motor function Apraxia Choreoathetosis Telangiectasia Limb ataxia Diplopia Sensorimotor neuropathy Truncal ataxia Late-onset distal muscle weakness



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