Cardiomyopathy, and Elevated serum creatine phosphokinase

Diseases related with Cardiomyopathy and Elevated serum creatine phosphokinase

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Elevated serum creatine phosphokinase that can help you solving undiagnosed cases.


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1L; CMD1L


Dilated cardiomyopathy, a disorder characterized by cardiac dilation and reduced systolic function, represents an outcome of a heterogeneous group of inherited and acquired disorders. For background and phenotypic information on dilated cardiomyopathy, see CMD1A (OMIM ).

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy
  • Sudden cardiac death


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1L; CMD1L

Medium match CARDIOMYOPATHY, DILATED, 1II; CMD1II


Related symptoms:

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

Medium match CARDIOMYOPATHY, DILATED, 3B; CMD3B


CARDIOMYOPATHY, DILATED, 3B; CMD3B Is also known as xlcm|cardiomyopathy, dilated, x-linked

Related symptoms:

  • Pain
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 3B; CMD3B

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Other less relevant matches:

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12


Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Myalgia
  • Scarring


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J


Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2J Is also known as lgmd2j|muscular dystrophy, limb-girdle, type 2j

Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Distal muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

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

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X


Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2X Is also known as autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|lgmd2x|muscular dystrophy, limb-girdle, type 2x

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Arrhythmia
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

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

Medium match X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Medium match CARDIOMYOPATHY, DILATED, 1X; CMD1X


CARDIOMYOPATHY, DILATED, 1X; CMD1X Is also known as cardiomyopathy, dilated, with mild or no proximal muscle weakness

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1X; CMD1X

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

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

Medium match LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE


Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.

LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE Is also known as zasp-related myofibrillar myopathy

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Irritability


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LATE-ONSET DISTAL MYOPATHY, MARKESBERY-GRIGGS TYPE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Proximal muscle weakness Sudden cardiac death

Rare Symptoms - Less than 30% cases


Autophagic vacuoles Limb-girdle muscular dystrophy EMG: myopathic abnormalities Calf muscle hypertrophy Myofibrillar myopathy Progressive proximal muscle weakness Progressive muscle weakness Abnormal EKG Reduced systolic function Severely reduced ejection fraction Reduced ejection fraction Ventricular tachycardia Irritability Hyporeflexia of lower limbs Neonatal hypotonia Hypertrophic cardiomyopathy Generalized muscle weakness Seizures Dyspnea Congenital muscular dystrophy EMG: neuropathic changes Muscle fiber splitting Triangular tongue Skeletal muscle atrophy Mildly elevated creatine phosphokinase Talipes equinovarus Macroglossia Tetraparesis Generalized hypotonia Palpitations Polyneuropathy Increased connective tissue Pneumonia Limb muscle weakness Global developmental delay Ventricular hypertrophy Cataract Tachycardia Mitral regurgitation Pain Chest pain Myocardial fibrosis Abnormal left ventricle morphology Myocardial necrosis Moderately reduced ejection fraction Myalgia Scarring Left ventricular hypertrophy Late-onset proximal muscle weakness Asymmetric septal hypertrophy Paroxysmal atrial fibrillation Distal muscle weakness Transient myeloproliferative syndrome Arrhythmia Syncope Atrioventricular block Centrally nucleated skeletal muscle fibers Limb-girdle muscle weakness Sinus bradycardia Loss of ability to walk Progressive distal muscle weakness



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