Cardiomyopathy, and Falls

Diseases related with Cardiomyopathy and Falls

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Falls 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 REDUCING BODY MYOPATHY


Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

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

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Other less relevant matches:

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


Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F Is also known as delta-sarcoglycanopathy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|lgmd2f|muscular dystrophy, limb-girdle, type 2f

Related symptoms:

  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM MESH ORPHANET MENDELIAN

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

Medium match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

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


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

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

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


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

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

Medium 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Falls

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Frequent falls Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Proximal muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Gowers sign Calf muscle hypertrophy Myalgia Limb-girdle muscular dystrophy Waddling gait Toe walking Hyperlordosis Respiratory insufficiency Scapular winging Difficulty walking Hyporeflexia Difficulty climbing stairs Myopathy Motor delay Skeletal muscle atrophy Muscle cramps Scoliosis Limb-girdle muscle weakness Generalized hypotonia Flexion contracture Lower limb muscle weakness

Rare Symptoms - Less than 30% cases


Rhabdomyolysis Limb-girdle muscle atrophy Left ventricular failure Calf muscle pseudohypertrophy Myotonia Reduced tendon reflexes Global developmental delay Congenital muscular dystrophy Infantile muscular hypotonia Rimmed vacuoles Myoglobinuria Intellectual disability Spinal rigidity Mildly elevated creatine phosphokinase Muscular hypotonia Reduced muscle fiber alpha dystroglycan Achilles tendon contracture Exercise intolerance Shoulder girdle muscle weakness Pelvic girdle muscle weakness Congestive heart failure Kyphosis Respiratory failure Lumbar hyperlordosis Facial palsy Reduced muscle fiber merosin Mitral valve prolapse Delayed speech and language development Hyperactivity Ichthyosis Microcephaly Seizures Atrial septal defect Absent muscle fiber alpha sarcoglycan Poor speech Attention deficit hyperactivity disorder Neonatal hypotonia Intellectual disability, mild Difficulty standing Wolff-Parkinson-White syndrome Mitochondrial depletion Muscle fiber hypertrophy Abnormality of the Achilles tendon Exercise-induced myoglobinuria Nocturnal hypoventilation Diaphragmatic weakness Restrictive deficit on pulmonary function testing Difficulty running Vertebral fusion Restrictive ventilatory defect Abnormal lung morphology Macroglossia Kyphoscoliosis Moderately reduced ejection fraction Growth delay Fatty replacement of skeletal muscle Hypoglycosylation of alpha-dystroglycan Abnormal glycosylation Neck flexor weakness Motor deterioration Generalized amyotrophy Skeletal muscle hypertrophy Tachycardia Pes cavus Pectus excavatum Hydrocephalus Talipes equinovarus Limited shoulder movement Proximal amyotrophy Tip-toe gait Progressive muscle weakness Ventricular arrhythmia Sudden cardiac death Elevated hepatic transaminase Pes planus Arrhythmia Fatigue Increased variability in muscle fiber diameter Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Limb muscle weakness Proximal muscle weakness in lower limbs Rigidity Areflexia Short neck Abnormal muscle fiber dystrophin expression Abnormal left ventricle morphology Myocardial fibrosis Reduced ejection fraction Delayed gross motor development Behavioral abnormality Gait disturbance Abnormality of the lower limb Hand muscle weakness Abnormal myocardium morphology Distal amyotrophy Exercise-induced myalgia Thoracic scoliosis EMG: myopathic abnormalities Unsteady gait Autophagic vacuoles Steppage gait Fasciculations Clumsiness Sensory impairment Small hand Distal muscle weakness Abnormal urinary color Absent muscle fiber delta sarcoglycan Proximal upper limb amyotrophy Generalized limb muscle atrophy Proximal lower limb amyotrophy Shuffling gait Ventricular hypertrophy Hypertrophic cardiomyopathy Reduced muscle dystrophin expression Distal upper limb muscle weakness Proximal muscle weakness in upper limbs Thigh hypertrophy



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