Myopathy, and Muscular dystrophy

Diseases related with Myopathy and Muscular dystrophy

In the following list you will find some of the most common rare diseases related to Myopathy and Muscular dystrophy that can help you solving undiagnosed cases.


Top matches:

Medium match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2


INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 Is also known as multisystem proteinopathy 2|msp2

Related symptoms:

  • Cognitive impairment
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Myopathy
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2

Medium match CREATINE PHOSPHOKINASE, ELEVATED SERUM


An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]

CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum|hyperckemia, idiopathic

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Fever
  • Fatigue
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about CREATINE PHOSPHOKINASE, ELEVATED SERUM

Medium match INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3


INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3|msp3

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3

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Other less relevant matches:

Medium match DISTAL ANOCTAMINOPATHY


Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.

DISTAL ANOCTAMINOPATHY Is also known as miyoshi muscular dystrophy type 3|mmd3|miyoshi myopathy 3

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ANOCTAMINOPATHY

Medium match MIYOSHI MUSCULAR DYSTROPHY 1; MMD1


Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects the gastrocnemius and soleus muscles, and can later spread to involve the thigh and gluteal muscles. Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. Serum creatine kinase is increased and muscle biopsies show myopathic and dystrophic changes with necrosis (summary by Miyoshi et al., 1986). Genetic Heterogeneity of Miyoshi Muscular DystrophyMiyoshi muscular dystrophy is a genetically heterogeneous disorder: MMD2 (OMIM ) has been mapped to chromosome 10p, and MMD3 (OMIM ) is caused by mutation in the ANO5 gene (OMIM ) on chromosome 11p14.See also Welander myopathy (OMIM ), an autosomal dominant form of late-onset distal myopathy.

MIYOSHI MUSCULAR DYSTROPHY 1; MMD1 Is also known as muscular dystrophy, distal, late-onset, autosomal recessive|miyoshi myopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MIYOSHI MUSCULAR DYSTROPHY 1; MMD1

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 NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

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


Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2G Is also known as lgmd2g|limb-girdle muscular dystrophy due to telethonin deficiency|muscular dystrophy, limb-girdle, type 2g

Related symptoms:

  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Muscular dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

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


Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 3|lgmd3|muscular dystrophy, limb-girdle, type 2b

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Medium match FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY


Fatal infantile hypertonic myofibrillar myopathy is a rare, genetic skeletal muscle disease characterized by muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death.

FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY Is also known as mfm, fatal infantile hypertonic, alpha-b crystallin-related

Related symptoms:

  • Seizures
  • Flexion contracture
  • Respiratory insufficiency
  • Myopathy
  • Hypertonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FATAL INFANTILE HYPERTONIC MYOFIBRILLAR MYOPATHY

Top 5 symptoms//phenotypes associated to Myopathy and Muscular dystrophy

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Limb-girdle muscular dystrophy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Rimmed vacuoles Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Difficulty climbing stairs EMG: myopathic abnormalities Distal muscle weakness Skeletal muscle atrophy Difficulty walking Distal amyotrophy Calf muscle hypertrophy Lower limb muscle weakness Myalgia Difficulty running

Rare Symptoms - Less than 30% cases


Inflammatory myopathy Limb muscle weakness Deposits immunoreactive to beta-amyloid protein Increased variability in muscle fiber diameter Mildly elevated creatine phosphokinase Distal lower limb muscle weakness Increased connective tissue Cognitive impairment Muscle fiber atrophy Centrally nucleated skeletal muscle fibers Abnormality of the skeletal system Fatigue Myositis Abnormality of muscle fibers Dementia Proximal amyotrophy Distal lower limb amyotrophy Behavioral abnormality Areflexia of lower limbs Proximal muscle weakness in lower limbs Proximal muscle weakness in upper limbs Proximal upper limb amyotrophy Generalized hypotonia Progressive muscle weakness Paralysis Morphological abnormality of the central nervous system Infantile muscular hypotonia Congenital muscular dystrophy Muscle fiber splitting Seizures Flexion contracture Respiratory insufficiency Hypertonia Respiratory failure Rigidity Apnea Muscle stiffness Weak cry Foot dorsiflexor weakness Gait disturbance Limb-girdle muscle weakness Exercise intolerance Increased muscle fatiguability Mitochondrial myopathy Malignant hyperthermia Elevated alkaline phosphatase Rhabdomyolysis Delayed gross motor development Muscle fiber inclusion bodies Abnormality of the abdominal musculature Muscle cramps Fever Waddling gait Motor delay Alzheimer disease Failure to thrive Quadriceps muscle atrophy Frontotemporal dementia Toe walking Muscle fibrillation Muscle fiber necrosis Decreased/absent ankle reflexes Decreased Achilles reflex Cardiomyopathy Transient myeloproliferative syndrome Ataxia Exercise-induced muscle cramps Myofibrillar myopathy



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