Myopathy, and Abnormality of the eye

Diseases related with Myopathy and Abnormality of the eye

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


Top matches:

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD


ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD Is also known as acc1 deficiency|acaca deficiency

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about ACETYL-COA CARBOXYLASE DEFICIENCY; ACACAD

Low match SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI


Related symptoms:

  • Pain
  • Myopathy
  • Pallor
  • Scarring
  • Myocardial fibrosis


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI

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Other less relevant matches:

Low match MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Muscle weakness
  • Feeding difficulties
  • Respiratory insufficiency
  • Myopathy
  • Neonatal hypotonia


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS2C

Low match MYOPATHY, CENTRONUCLEAR, 3; CNM3


Related symptoms:

  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Muscle cramps
  • Centrally nucleated skeletal muscle fibers


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 3; CNM3

Low match PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA


Related symptoms:

  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness
  • Myalgia
  • Exercise-induced myalgia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA

Low match HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2


Related symptoms:

  • Muscle weakness
  • Myopathy
  • Paralysis
  • Hypokalemia
  • Myotonia


SOURCES: OMIM MESH MENDELIAN

More info about HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2

Low match GLUTAMATE-CYSTEINE LIGASE DEFICIENCY


Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.

GLUTAMATE-CYSTEINE LIGASE DEFICIENCY Is also known as gamma-glutamylcysteine synthetase deficiency

Related symptoms:

  • Anemia
  • Myopathy
  • Abnormality of metabolism/homeostasis
  • Hemolytic anemia
  • Polyneuropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GLUTAMATE-CYSTEINE LIGASE DEFICIENCY

Low match X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME


X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME Is also known as xq28 contiguous gene deletion syndrome

Related symptoms:

  • Myopathy
  • Hypospadias
  • Micropenis
  • Bifid scrotum


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME

Low match POLYGLUCOSAN BODY MYOPATHY TYPE 2


Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014).For a discussion of genetic heterogeneity of PGBM, see PGBM1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Gait disturbance
  • Myopathy
  • Difficulty walking


SOURCES: OMIM ORPHANET MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY TYPE 2

Top 5 symptoms//phenotypes associated to Myopathy and Abnormality of the eye

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Rare - less than 30% cases
Proximal muscle weakness Rare - less than 30% cases
Abnormality of metabolism/homeostasis Rare - less than 30% cases
Hemolytic anemia Rare - less than 30% cases
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Other less frequent symptoms

Patients with Myopathy and Abnormality of the eye. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Polyneuropathy Spinocerebellar tract degeneration Nonspherocytic hemolytic anemia Glutathione synthetase deficiency Late-onset spinocerebellar degeneration Hypospadias Episodic flaccid weakness Micropenis Bifid scrotum Skeletal muscle atrophy Gait disturbance Difficulty walking Distal muscle weakness Limb-girdle muscle weakness Anemia Myotonia Periodic paralysis Respiratory insufficiency Growth delay Pain Pallor Scarring Myocardial fibrosis Feeding difficulties Neonatal hypotonia Generalized hypotonia Muscle cramps Centrally nucleated skeletal muscle fibers Ring fibers Myalgia Exercise-induced myalgia Paralysis Hypokalemia Shoulder girdle muscle weakness



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