Skeletal muscle atrophy, and Elevated serum creatine phosphokinase

Diseases related with Skeletal muscle atrophy and Elevated serum creatine phosphokinase

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


Top matches:

Low 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

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


Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2N Is also known as muscular dystrophy, limb-girdle, autosomal recessive 14|lgmd2n|muscular dystrophy, limb-girdle, type 2n|lgmdr14|muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

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

Low 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:

Low 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

Low 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

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


Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2O Is also known as lgmdr15|muscular dystrophy, limb-girdle, type 2o|muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related|lgmd2o|muscular dystrophy, limb-girdle, autosomal recessive 15

Related symptoms:

  • Muscle weakness
  • Motor delay
  • Myopia
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

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

Low match NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN


NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, {118210}) and distal hereditary motor neuropathy (see, e.g., HMN1, {182960}). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012).

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN Is also known as myokymia, myotonia, and muscle wasting|gamstorp-wohlfart syndrome

Related symptoms:

  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

Low 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

Low match AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C


Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C Is also known as ri-cmt type c|charcot-marie-tooth neuropathy, recessive intermediate c|ri-cmtc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Areflexia
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE C

Low 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

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Muscular dystrophy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Limb-girdle muscular dystrophy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Distal muscle weakness Rimmed vacuoles Lower limb muscle weakness Difficulty climbing stairs Distal amyotrophy Mildly elevated creatine phosphokinase

Rare Symptoms - Less than 30% cases


Muscle fibrillation Gait disturbance Deposits immunoreactive to beta-amyloid protein Sensory impairment Distal sensory impairment EMG: myopathic abnormalities Peripheral axonal neuropathy Limb muscle weakness Abnormality of the foot Cognitive impairment Myalgia Peripheral neuropathy Skeletal muscle hypertrophy Centrally nucleated skeletal muscle fibers Myositis Motor delay Muscle fiber atrophy Calf muscle hypertrophy Cardiomyopathy Hyperhidrosis Limb-girdle muscle weakness Alzheimer disease Ataxia Muscle cramps Pes cavus Decreased number of large peripheral myelinated nerve fibers Fasciculations Foot dorsiflexor weakness Muscle stiffness Hammertoe Areflexia Myotonia Decreased motor nerve conduction velocity Sensory axonal neuropathy Myokymia Percussion myotonia Transient myeloproliferative syndrome Muscle fiber necrosis Hyporeflexia Exercise intolerance Abnormality of the skeletal system Behavioral abnormality Dementia Frontotemporal dementia Right bundle branch block Bundle branch block Elevated alkaline phosphatase Muscle fiber inclusion bodies Abnormality of the abdominal musculature Waddling gait Difficulty running Generalized amyotrophy Quadriceps muscle atrophy Difficulty walking Toe walking Inflammatory myopathy Decreased/absent ankle reflexes Decreased Achilles reflex Myopia Fatigue Hyperlordosis Lumbar hyperlordosis Gowers sign Morphological abnormality of the central nervous system



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