Cardiomyopathy, and Muscle cramps

Diseases related with Cardiomyopathy and Muscle cramps

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


Top matches:

Medium match SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS


Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

Medium match RIPPLING MUSCLE DISEASE


Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.

RIPPLING MUSCLE DISEASE Is also known as muscular dystrophy, limb-girdle, type 1c, formerly|rippling muscle disease|rmd|lgmd1c, formerly

Related symptoms:

  • Muscle weakness
  • Pain
  • Fatigue
  • Talipes equinovarus
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about RIPPLING MUSCLE DISEASE

Medium match MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12


Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 Is also known as myasthenic syndrome, congenital, with tubular aggregates 1|cmsta1

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Motor delay
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

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Other less relevant matches:

Medium match BECKER MUSCULAR DYSTROPHY


Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

BECKER MUSCULAR DYSTROPHY Is also known as bmd|becker dystrophinopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about BECKER MUSCULAR DYSTROPHY

Low match HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T


Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2T Is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related|muscular dystrophy, limb-girdle, autosomal recessive 19|muscular dystrophy, limb-girdle, type 2t|lgmd2t|lgmdr19

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

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

Low match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Muscle cramps

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Muscle weakness Very Common - Between 80% and 100% cases
Myalgia Common - Between 50% and 80% cases
Exercise intolerance Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myopathy Dilated cardiomyopathy Muscular dystrophy Myoglobinuria Fatigue Motor delay Pain Toe walking Hypertrophic cardiomyopathy Limb-girdle muscular dystrophy Generalized hypotonia Calf muscle hypertrophy Difficulty climbing stairs Gowers sign Falls Exercise-induced myoglobinuria Easy fatigability Muscular hypotonia Rhabdomyolysis

Rare Symptoms - Less than 30% cases


EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Arrhythmia Difficulty walking Neck muscle weakness Waddling gait Intellectual disability Sudden cardiac death Proximal muscle weakness in upper limbs Distal upper limb muscle weakness Acidosis Global developmental delay Vomiting Seizures Respiratory insufficiency Congestive heart failure Respiratory failure Hyperlordosis Skeletal muscle atrophy Pelvic girdle muscle weakness Exercise-induced myalgia Shoulder girdle muscle weakness Scapular winging Lower limb muscle weakness Myotonia Irritability Fatigable weakness Exercise-induced muscle cramps Behavioral abnormality Muscle stiffness Decreased plasma carnitine Arthritis Corneal opacity Jaundice Respiratory arrest Blindness Nausea and vomiting Limb muscle weakness Flexion contracture Dicarboxylic aciduria Nausea Anemia Decreased liver function Reduced muscle fiber merosin Reduced muscle fiber alpha dystroglycan Thigh hypertrophy Hemolytic anemia Abnormality of the Achilles tendon Nocturnal hypoventilation Diaphragmatic weakness Restrictive deficit on pulmonary function testing Left ventricular failure Achilles tendon contracture Difficulty running Vertebral fusion Hepatocellular necrosis Restrictive ventilatory defect Nonketotic hypoglycemia Reticulocytosis Cerebral visual impairment Hyperactivity Coma Cardiac arrest Metabolic acidosis Tachypnea Hepatic steatosis Lethargy Autistic behavior Hypoglycemia Hyperammonemia Frequent falls Hepatosplenomegaly Autism Pericardial effusion Encephalopathy Cholelithiasis Drowsiness Atrial septal defect Hepatomegaly Reduced erythrocyte 2,3-diphosphoglycerate concentration Increased muscle glycogen content Gastric ulcer Increased total bilirubin Cardiorespiratory arrest Dark urine Hypoketotic hypoglycemia Nonspherocytic hemolytic anemia Gout Cardiomegaly Polycythemia Congenital muscular dystrophy Decreased activity of mitochondrial complex I Abnormal lung morphology Ptosis Hand muscle weakness Proximal muscle weakness in lower limbs Abnormality of the lower limb Limb-girdle muscle weakness Ventricular arrhythmia Reduced tendon reflexes Elevated hepatic transaminase Pes planus Proximal amyotrophy Mildly elevated creatine phosphokinase Ophthalmoparesis Ophthalmoplegia Facial palsy Percussion-induced rapid rolling muscle contractions Calf muscle pseudohypertrophy Muscle hyperirritability Muscle mounding Exercise-induced muscle stiffness Skeletal muscle hypertrophy EMG abnormality Overgrowth Talipes equinovarus Abnormal muscle fiber dystrophin expression Abnormal left ventricle morphology Myocardial fibrosis Reduced ejection fraction Delayed gross motor development Gait disturbance Abnormal urinary color Limb-girdle muscle atrophy Macroglossia Microcephaly Kyphoscoliosis Kyphosis Scoliosis Fatigable weakness of bulbar muscles Dilatation of the ventricular cavity Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Axial muscle weakness Distal lower limb muscle weakness Intellectual disability, mild Cognitive impairment Cataract Nystagmus Abnormal iron deposition in mitochondria Reduced muscle dystrophin expression Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex II Subsarcolemmal accumulations of abnormally shaped mitochondria Increased intramyocellular lipid droplets Increased muscle fatiguability Sideroblastic anemia Mitochondrial myopathy Palpitations Increased serum lactate Tachycardia Lactic acidosis Dyspnea Dilatation Respiratory distress Exercise-induced rhabdomyolysis



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