Cardiomyopathy, and Limitation of joint mobility

Diseases related with Cardiomyopathy and Limitation of joint mobility

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

Top matches:

Low match GNE MYOPATHY

GNE myopathy is a rare autosomal recessive distal myopathy characterized by early adult-onset, slowly to moderately progressive distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

GNE MYOPATHY Is also known as nonaka myopathy|ibm2|distal myopathy, nonaka type|hibm2|dmrv|distal myopathy with rimmed vacuoles|hereditary inclusion body myopathy type 2|quadriceps-sparing myopathy|inclusion body myopathy type 2

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about GNE MYOPATHY

Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L Is also known as lgmd2l|muscular dystrophy, limb-girdle, type 2l

Related symptoms:

  • Pain
  • Flexion contracture
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2D Is also known as duchenne-like autosomal recessive muscular dystrophy, type 2|muscular dystrophy, limb-girdle, type 2d|dmda2|alpha-sarcoglycanopathy|lgmd2d|adhalinopathy, primary|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

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

Other less relevant matches:

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Limitation of joint mobility

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Flexion contracture Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Cardiomyopathy and Limitation of joint mobility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Myopathy Scapular winging EMG: myopathic abnormalities Limb-girdle muscular dystrophy Skeletal muscle atrophy Arrhythmia Elbow flexion contracture Limb-girdle muscle weakness Dilated cardiomyopathy Respiratory insufficiency Gait disturbance Proximal muscle weakness in upper limbs Hypertrophic cardiomyopathy Calf muscle hypertrophy Ankle contracture Difficulty walking Ventricular hypertrophy Congestive heart failure Hyperlordosis Pain Limb-girdle muscle atrophy Generalized hypotonia Neonatal hypotonia Achilles tendon contracture Waddling gait Rimmed vacuoles Facial palsy

Rare Symptoms - Less than 30% cases

Proximal lower limb amyotrophy Respiratory distress Unsteady gait Gowers sign Toe walking Difficulty climbing stairs Shoulder girdle muscle weakness Pes cavus Kyphosis Motor delay Retrognathia Axial muscle weakness Respiratory insufficiency due to muscle weakness Congenital hip dislocation Scarring Fatty replacement of skeletal muscle Paralysis Lower limb muscle weakness Spinal rigidity Skeletal muscle hypertrophy Back pain Sudden cardiac death Left ventricular hypertrophy Rigidity Respiratory failure Atrioventricular block Lipodystrophy Ptosis Atrial arrhythmia Lower limb amyotrophy Increased variability in muscle fiber diameter Limited shoulder movement Proximal muscle weakness in lower limbs Hip flexor weakness Myoglobinuria Exercise-induced myalgia Pelvic girdle muscle weakness Heart block Hyperkeratosis Posteriorly rotated ears Stiff neck Scapuloperoneal weakness Limited neck flexion Failure to thrive Abnormality of the skeletal system Sprengel anomaly Synophrys Kyphoscoliosis Protruding ear Downslanted palpebral fissures Distal muscle weakness Camptodactyly of finger Papule Low-set ears Hip dislocation Brachyturricephaly Decreased fetal movement Prominent supraorbital ridges Abnormal muscle fiber lamin A/C Joint contracture of the hand Everted lower lip vermilion Hypertension Dysphagia Short neck Wide nose Broad palm Dilatation Abnormality of the voice Myotonia Hallux valgus Pugilistic facies Marked muscular hypertrophy Dysphonia Abnormality of the cardiovascular system Progressive muscle weakness Reduced tendon reflexes Increased LDL cholesterol concentration Proximal upper limb amyotrophy Camptodactyly of toe Obesity Pectus excavatum Ventricular escape rhythm Joint stiffness Supraventricular arrhythmia Mitral regurgitation Ichthyosis Lumbar hyperlordosis Abnormality of the neck Vocal cord paralysis Progressive proximal muscle weakness Hypertriglyceridemia Pelvic girdle amyotrophy Muscular hypotonia Intellectual disability Broad nail Congenital muscular dystrophy Hyperplasia of the maxilla Limited elbow movement Torticollis Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Congenital contracture Follicular hyperkeratosis Plantar flexion contractures Abnormality of the mitochondrion Diaphragmatic paralysis Progressive pes cavus Type 1 muscle fiber atrophy Congenital muscular torticollis Necrotizing myopathy Eclabion Prominent nose Glucose intolerance Fatiguable weakness of proximal limb muscles Quadriceps muscle atrophy Muscle fiber atrophy Wrist flexion contracture Abnormality of muscle fibers Increased endomysial connective tissue Upper limb amyotrophy Hamstring contractures Flexion contracture of finger Pelvic girdle muscle atrophy EMG: axonal abnormality Increased connective tissue EMG: myotonic runs Internally nucleated skeletal muscle fibers Abnormality of the calf musculature Falls Frequent falls Rhabdomyolysis Thoracic scoliosis Abnormal myocardium morphology Muscle fiber splitting Distal lower limb muscle weakness Tip-toe gait Quadriceps muscle weakness Dementia Hypothyroidism Foot dorsiflexor weakness Steppage gait Mildly elevated creatine phosphokinase Absent Achilles reflex Shoulder girdle muscle atrophy Weakness of long finger extensor muscles Tibialis muscle weakness EMG: neuropathic changes Limited wrist extension Muscle fiber inclusion bodies Abnormality of the foot musculature EMG: positive sharp waves EMG: myotonic discharges Abnormality of the right hemidiaphragm Myalgia Limb muscle weakness Genu recurvatum Left ventricular failure Calf muscle pseudohypertrophy Paroxysmal supraventricular tachycardia Syncope Generalized hyperpigmentation Joint swelling Increased serum ferritin Congenital hepatic fibrosis Seizures Feeding difficulties Wide nasal bridge Midface retrusion Atrial fibrillation Joint dislocation Bradycardia Knee flexion contracture Ventricular tachycardia Exertional dyspnea Difficulty running Abnormal atrioventricular conduction Abnormal echocardiogram Sick sinus syndrome Impotence Hepatic fibrosis Reduced muscle fiber alpha dystroglycan Centrally nucleated skeletal muscle fibers Absent muscle fiber alpha sarcoglycan Micrognathia High palate Areflexia Narrow mouth Ophthalmoplegia Bifid uvula Severe muscular hypotonia Hip contracture Osteoarthritis Cataract Anemia Fatigue Abdominal pain Arthralgia Abnormality of the liver Cirrhosis Hepatic steatosis Dislocation of toes


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