Cardiomyopathy, and Lower limb muscle weakness

Diseases related with Cardiomyopathy and Lower limb muscle weakness

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


Top matches:

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS


Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/arreflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS Is also known as cmt2 with giant axons|hmsn2 with giant axons|autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Cardiomyopathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 WITH GIANT AXONS

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

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Other less relevant matches:

Medium match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Medium match MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA


MT-ATP6-related mitochondrial spastic paraplegia is a rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.

MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA Is also known as maternally-inherited spastic paraplegia|maternally-inherited spg

Related symptoms:

  • Hyperreflexia
  • Optic atrophy
  • Cardiomyopathy
  • Babinski sign
  • Diabetes mellitus


SOURCES: ORPHANET MENDELIAN

More info about MT-ATP6-RELATED MITOCHONDRIAL SPASTIC PARAPLEGIA

Medium 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

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


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

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 DISTAL MYOTILINOPATHY


Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Lower limb muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Scapular winging Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Respiratory insufficiency Falls Dilated cardiomyopathy Myalgia Limb muscle weakness Increased variability in muscle fiber diameter Rimmed vacuoles Steppage gait Limb-girdle muscular dystrophy Areflexia Hyporeflexia Distal muscle weakness Muscular dystrophy Distal amyotrophy EMG: myopathic abnormalities Shoulder girdle muscle weakness Mildly elevated creatine phosphokinase

Rare Symptoms - Less than 30% cases


Centrally nucleated skeletal muscle fibers Frequent falls Progressive muscle weakness Peripheral neuropathy Foot dorsiflexor weakness Distal lower limb muscle weakness Pelvic girdle muscle weakness Skeletal muscle atrophy Fatty replacement of skeletal muscle Scoliosis Lower limb amyotrophy Respiratory failure Facial palsy Sensory impairment Gait disturbance Gowers sign Peripheral axonal neuropathy Autophagic vacuoles Abnormality of the right hemidiaphragm Achilles tendon contracture Myoglobinuria Ankle contracture Calf muscle hypertrophy Myofibrillar myopathy Elbow flexion contracture Hyporeflexia of lower limbs Pain EMG: positive sharp waves EMG: myotonic discharges Muscle stiffness Abnormality of the foot musculature Muscle fiber inclusion bodies Hip flexor weakness Limited wrist extension Tibialis muscle weakness Progressive distal muscle weakness Quadriceps muscle weakness Limited shoulder movement Weakness of long finger extensor muscles Shoulder girdle muscle atrophy Genu recurvatum Quadriceps muscle atrophy Generalized muscle weakness Fasciculations EMG: axonal abnormality Flexion contracture of finger EMG: myotonic runs Hamstring contractures Internally nucleated skeletal muscle fibers Abnormality of the calf musculature Upper limb amyotrophy Small hand Increased endomysial connective tissue Clumsiness Proximal muscle weakness in upper limbs Abnormality of muscle fibers Pelvic girdle muscle atrophy Myotonia Dysarthria Wrist flexion contracture Dysphagia Muscle fiber atrophy Pneumonia Proximal muscle weakness in lower limbs Muscle fiber splitting Polyneuropathy Increased connective tissue Exercise-induced myalgia EMG: neuropathic changes Hyperreflexia Absent Achilles reflex Muscular hypotonia Rigidity Kyphosis Short neck Abnormal muscle fiber dystrophin expression Abnormal left ventricle morphology Myocardial fibrosis Reduced ejection fraction Delayed gross motor development Exercise intolerance Muscle cramps Behavioral abnormality Global developmental delay Lumbar hyperlordosis Intellectual disability Impaired distal tactile sensation Peroneal muscle weakness Impaired distal vibration sensation EMG: chronic denervation signs Onion bulb formation Decreased motor nerve conduction velocity Hammertoe Sensory neuropathy Distal sensory impairment Abnormality of the foot Pes cavus Hyperlordosis Respiratory insufficiency due to muscle weakness Hypothyroidism Diabetes mellitus Dementia Leg muscle stiffness Lower limb pain Supraventricular arrhythmia Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Lower limb spasticity Increased serum lactate Abnormal cerebellum morphology Abnormal pyramidal sign Difficulty walking Babinski sign Spinal rigidity Optic atrophy Scapuloperoneal weakness Civatte bodies Scapuloperoneal amyotrophy Reduced vital capacity Type 1 muscle fiber predominance Myopathic facies Long face Hypertrophic cardiomyopathy Congestive heart failure High palate Short stature Muscle fiber cytoplasmatic inclusion bodies



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